Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43853701G>A , CM000663.2:g.43853701G>A	GRCh38
NC_000001.10:g.44319373G>A , CM000663.1:g.44319373G>A	GRCh37
NC_000001.9:g.44091960G>A	NCBI36
NG_028196.1:g.151156G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262915.8:c.509+15390G>A	ENSP00000262915.3:n.509+15390G>A
ENST00000332628.11:c.88+38768G>A
ENST00000347631.8:c.302+15390G>A MANE Select	ENSP00000317192.6:n.302+15390G>A
ENST00000351035.8:c.464+15390G>A	ENSP00000316999.6:n.464+15390G>A
ENST00000353126.8:c.302+15390G>A	ENSP00000330463.3:n.302+15390G>A
ENST00000361392.9:c.347+15390G>A	ENSP00000355341.5:n.347+15390G>A
ENST00000361400.9:c.254+15390G>A	ENSP00000354748.4:n.254+15390G>A
ENST00000361746.9:c.302+15390G>A	ENSP00000354657.5:n.302+15390G>A
ENST00000361812.9:c.347+15390G>A	ENSP00000355201.4:n.347+15390G>A
ENST00000372366.6:c.299+15390G>A	ENSP00000361441.1:n.299+15390G>A
ENST00000372368.7:c.464+15390G>A	ENSP00000361443.3:n.464+15390G>A
ENST00000372372.7:c.416+15390G>A	ENSP00000361447.2:n.416+15390G>A
ENST00000372374.7:c.209+38768G>A	ENSP00000361449.2:n.209+38768G>A
ENST00000461375.2:n.179+15390G>A
ENST00000469715.6:c.119-40682G>A	ENSP00000431700.2:n.119-40682G>A
ENST00000489897.6:c.303-4434G>A	ENSP00000437206.1:n.303-4434G>A
ENST00000490541.6:c.211+15390G>A	ENSP00000435018.2:n.211+15390G>A
ENST00000531993.6:c.161+38768G>A	ENSP00000432682.2:n.161+38768G>A
ENST00000533933.6:c.245+15390G>A	ENSP00000432965.2:n.245+15390G>A
ENST00000533997.6:c.302+15390G>A	ENSP00000432071.1:n.302+15390G>A
ENST00000642194.1:c.347+15390G>A	ENSP00000493708.1:n.347+15390G>A
ENST00000642331.1:c.347+15390G>A	ENSP00000493823.1:n.347+15390G>A
ENST00000642504.1:c.302+15390G>A	ENSP00000494857.1:n.302+15390G>A
ENST00000642780.1:c.100+15390G>A
ENST00000642934.1:c.254+15390G>A	ENSP00000494146.1:n.254+15390G>A
ENST00000642949.1:c.302+15390G>A	ENSP00000495709.1:n.302+15390G>A
ENST00000643252.1:c.302+15390G>A	ENSP00000495333.1:n.302+15390G>A
ENST00000643283.1:c.347+15390G>A	ENSP00000494746.1:n.347+15390G>A
ENST00000643597.1:c.254+15390G>A	ENSP00000495977.1:n.254+15390G>A
ENST00000643813.1:c.347+15390G>A	ENSP00000496646.1:n.347+15390G>A
ENST00000643886.1:c.*160+15390G>A	ENSP00000495313.1:n.*160+15390G>A
ENST00000644195.1:c.302+15390G>A	ENSP00000494201.1:n.302+15390G>A
ENST00000644287.1:c.196+15390G>A
ENST00000644645.1:c.62+15390G>A	ENSP00000495647.1:n.62+15390G>A
ENST00000644922.1:c.269+15390G>A	ENSP00000496289.1:n.269+15390G>A
ENST00000645034.1:c.302+15390G>A	ENSP00000496350.1:n.302+15390G>A
ENST00000645057.1:c.*1624+15390G>A	ENSP00000494063.1:n.*1624+15390G>A
ENST00000645117.1:c.238+15390G>A
ENST00000645142.1:c.302+15390G>A	ENSP00000496550.1:n.302+15390G>A
ENST00000645165.1:c.303-4434G>A	ENSP00000493660.1:n.303-4434G>A
ENST00000645394.1:c.209+38768G>A	ENSP00000495299.1:n.209+38768G>A
ENST00000645640.1:c.303-4434G>A	ENSP00000494852.1:n.303-4434G>A
ENST00000645705.1:c.254+15390G>A	ENSP00000496492.1:n.254+15390G>A
ENST00000646027.1:c.254+15390G>A	ENSP00000494396.1:n.254+15390G>A
ENST00000646069.1:c.209+38768G>A	ENSP00000496585.1:n.209+38768G>A
ENST00000646096.1:c.*309-4434G>A	ENSP00000496444.1:n.*309-4434G>A
ENST00000646686.1:c.254+15390G>A	ENSP00000495683.1:n.254+15390G>A
ENST00000646971.1:c.302+15390G>A	ENSP00000495887.1:n.302+15390G>A
ENST00000647128.1:c.255-4434G>A	ENSP00000494374.1:n.255-4434G>A
ENST00000647134.1:c.254+15390G>A	ENSP00000495797.1:n.254+15390G>A
ENST00000647148.1:c.302+15390G>A	ENSP00000495939.1:n.302+15390G>A
ENST00000647237.1:c.464+15390G>A	ENSP00000495624.1:n.464+15390G>A
ENST00000647482.1:c.302+15390G>A	ENSP00000495567.1:n.302+15390G>A
ENST00000647503.1:c.184+15390G>A
ENST00000262915.7:c.509+15390G>A	ENSP00000262915.3:n.509+15390G>A
ENST00000330208.6:c.254+15390G>A	ENSP00000333494.3:n.254+15390G>A
ENST00000332628.10:c.209+38768G>A	ENSP00000329755.6:n.209+38768G>A
ENST00000335430.10:c.299+15390G>A	ENSP00000335633.7:n.299+15390G>A
ENST00000347631.6:c.347+15390G>A	ENSP00000317192.4:n.347+15390G>A
ENST00000351035.7:c.416+15390G>A	ENSP00000316999.5:n.416+15390G>A
ENST00000353126.7:c.302+15390G>A	ENSP00000330463.3:n.302+15390G>A
ENST00000361392.8:c.302+15390G>A	ENSP00000355341.4:n.302+15390G>A
ENST00000361400.8:c.254+15390G>A	ENSP00000354748.4:n.254+15390G>A
ENST00000361746.8:c.509+15390G>A	ENSP00000354657.4:n.509+15390G>A
ENST00000361812.8:c.347+15390G>A	ENSP00000355201.4:n.347+15390G>A
ENST00000372362.6:c.302+15390G>A	ENSP00000361437.2:n.302+15390G>A
ENST00000372365.5:c.302+15390G>A	ENSP00000361440.1:n.302+15390G>A
ENST00000372366.5:c.299+15390G>A	ENSP00000361441.1:n.299+15390G>A
ENST00000372367.5:c.299+15390G>A	ENSP00000361442.1:n.299+15390G>A
ENST00000372368.6:c.464+15390G>A	ENSP00000361443.2:n.464+15390G>A
ENST00000372369.5:c.302+15390G>A	ENSP00000361444.1:n.302+15390G>A
ENST00000372372.6:c.416+15390G>A	ENSP00000361447.2:n.416+15390G>A
ENST00000372374.6:c.209+38768G>A	ENSP00000361449.2:n.209+38768G>A
ENST00000461375.1:n.178+15390G>A
ENST00000469715.5:c.302+15390G>A	ENSP00000431700.1:n.302+15390G>A
ENST00000489897.5:c.303-4434G>A	ENSP00000437206.1:n.303-4434G>A
ENST00000490541.5:c.119-40682G>A	ENSP00000435018.1:n.119-40682G>A
ENST00000528371.5:c.254+15390G>A	ENSP00000434876.1:n.254+15390G>A
ENST00000530154.5:c.302+15390G>A	ENSP00000434686.1:n.302+15390G>A
ENST00000530581.5:c.254+15390G>A	ENSP00000437293.1:n.254+15390G>A
ENST00000531451.5:c.254+15390G>A	ENSP00000435603.1:n.254+15390G>A
ENST00000531816.1:c.254+15390G>A	ENSP00000434378.1:n.254+15390G>A
ENST00000531993.5:c.254+15390G>A	ENSP00000432682.1:n.254+15390G>A
ENST00000533212.5:c.302+15390G>A	ENSP00000435621.1:n.302+15390G>A
ENST00000533933.5:c.302+15390G>A	ENSP00000432965.1:n.302+15390G>A
ENST00000533997.5:c.302+15390G>A	ENSP00000432071.1:n.302+15390G>A
ENST00000545417.5:c.347+15390G>A	ENSP00000439634.1:n.347+15390G>A
NM_001270459.1:c.302+15390G>A	NP_001257388.1:n.302+15390G>A
NM_001270460.1:c.209+38768G>A	NP_001257389.1:n.209+38768G>A
NM_001270461.1:c.254+15390G>A	NP_001257390.1:n.254+15390G>A
NM_001270462.1:c.161+38768G>A	NP_001257391.1:n.161+38768G>A
NM_001270463.1:c.299+15390G>A	NP_001257392.1:n.299+15390G>A
NM_001270464.1:c.254+15390G>A	NP_001257393.1:n.254+15390G>A
NM_001270465.1:c.299+15390G>A	NP_001257394.1:n.299+15390G>A
NM_001270466.1:c.254+15390G>A	NP_001257395.1:n.254+15390G>A
NM_006279.3:c.302+15390G>A	NP_006270.1:n.302+15390G>A
NM_174963.3:c.509+15390G>A	NP_777623.2:n.509+15390G>A
NM_174964.2:c.347+15390G>A	NP_777624.1:n.347+15390G>A
NM_174965.2:c.347+15390G>A	NP_777625.1:n.347+15390G>A
NM_174966.2:c.302+15390G>A	NP_777626.1:n.302+15390G>A
NM_174967.2:c.302+15390G>A	NP_777627.1:n.302+15390G>A
NM_174968.3:c.464+15390G>A	NP_777628.2:n.464+15390G>A
NM_174969.2:c.254+15390G>A	NP_777629.1:n.254+15390G>A
NM_174970.2:c.254+15390G>A	NP_777630.1:n.254+15390G>A
NM_174971.3:c.416+15390G>A	NP_777631.2:n.416+15390G>A
NR_073016.1:n.493+15390G>A
NR_073017.1:n.402+15390G>A
NR_073018.1:n.493+15390G>A
NR_073019.1:n.310-40682G>A
NR_073020.1:n.445+15390G>A
NR_073021.1:n.494-4434G>A
NR_073023.1:n.493+15390G>A
XM_006710825.2:c.302+15390G>A	XP_006710888.1:n.302+15390G>A
XM_006710826.2:c.299+15390G>A	XP_006710889.1:n.299+15390G>A
XM_006710827.2:c.254+15390G>A	XP_006710890.1:n.254+15390G>A
XM_006710828.2:c.-151-4434G>A	XP_006710891.1:n.-151-4434G>A
XM_011541972.1:c.509+15390G>A	XP_011540274.1:n.509+15390G>A
XM_011541973.1:c.509+15390G>A	XP_011540275.1:n.509+15390G>A
XM_011541974.1:c.464+15390G>A	XP_011540276.1:n.464+15390G>A
XM_011541975.1:c.461+15390G>A	XP_011540277.1:n.461+15390G>A
XM_011541976.1:c.416+15390G>A	XP_011540278.1:n.416+15390G>A
XM_011541977.1:c.347+15390G>A	XP_011540279.1:n.347+15390G>A
XM_011541978.1:c.341+15390G>A	XP_011540280.1:n.341+15390G>A
XM_011541979.1:c.179+15390G>A	XP_011540281.1:n.179+15390G>A
XM_011541980.1:c.137+15390G>A	XP_011540282.1:n.137+15390G>A
XM_011541981.1:c.509+15390G>A	XP_011540283.1:n.509+15390G>A
XM_011541982.1:c.-151-4434G>A	XP_011540284.1:n.-151-4434G>A
XM_011541983.1:c.20+15390G>A	XP_011540285.1:n.20+15390G>A
XM_011541984.1:c.509+15390G>A	XP_011540286.1:n.509+15390G>A
XM_011541985.1:c.509+15390G>A	XP_011540287.1:n.509+15390G>A
XM_011541986.1:c.509+15390G>A	XP_011540288.1:n.509+15390G>A
XM_011541987.1:c.-193+15390G>A	XP_011540289.1:n.-193+15390G>A
XM_011541989.1:c.509+15390G>A	XP_011540291.1:n.509+15390G>A
XM_011541990.1:c.-370+15390G>A	XP_011540292.1:n.-370+15390G>A
XR_946742.1:n.700+15390G>A
XR_946743.1:n.700+15390G>A
XR_946744.1:n.700+15390G>A
XR_946745.1:n.703+15390G>A
NM_001270461.2:c.254+15390G>A	NP_001257390.1:n.254+15390G>A
NM_001270462.2:c.161+38768G>A	NP_001257391.1:n.161+38768G>A
NM_001270463.2:c.299+15390G>A	NP_001257392.1:n.299+15390G>A
NM_001270464.2:c.254+15390G>A	NP_001257393.1:n.254+15390G>A
NM_001270465.2:c.299+15390G>A	NP_001257394.1:n.299+15390G>A
NM_001270466.2:c.254+15390G>A	NP_001257395.1:n.254+15390G>A
NM_001350619.1:c.347+15390G>A	NP_001337548.1:n.347+15390G>A
NM_001350620.1:c.302+15390G>A	NP_001337549.1:n.302+15390G>A
NM_001350621.1:c.-151-4434G>A	NP_001337550.1:n.-151-4434G>A
NM_001363573.1:c.464+15390G>A	NP_001350502.1:n.464+15390G>A
NM_006279.4:c.302+15390G>A	NP_006270.1:n.302+15390G>A
NM_174963.4:c.509+15390G>A	NP_777623.2:n.509+15390G>A
NM_174964.3:c.347+15390G>A	NP_777624.1:n.347+15390G>A
NM_174965.3:c.347+15390G>A	NP_777625.1:n.347+15390G>A
NM_174966.3:c.302+15390G>A	NP_777626.1:n.302+15390G>A
NM_174967.3:c.302+15390G>A	NP_777627.1:n.302+15390G>A
NM_174968.4:c.464+15390G>A	NP_777628.2:n.464+15390G>A
NM_174969.3:c.254+15390G>A	NP_777629.1:n.254+15390G>A
NM_174970.3:c.254+15390G>A	NP_777630.1:n.254+15390G>A
NM_174971.4:c.416+15390G>A	NP_777631.2:n.416+15390G>A
NR_073016.2:n.529+15390G>A
NR_073017.2:n.438+15390G>A
NR_073018.2:n.529+15390G>A
NR_073019.2:n.346-40682G>A
NR_073020.2:n.481+15390G>A
NR_073021.2:n.530-4434G>A
NR_073023.2:n.529+15390G>A
NR_146867.1:n.529+15390G>A
XM_006710827.4:c.254+15390G>A	XP_006710890.1:n.254+15390G>A
XM_011541973.2:c.509+15390G>A	XP_011540275.1:n.509+15390G>A
XM_011541974.2:c.464+15390G>A	XP_011540276.1:n.464+15390G>A
XM_011541976.2:c.416+15390G>A	XP_011540278.1:n.416+15390G>A
XM_011541980.3:c.137+15390G>A	XP_011540282.1:n.137+15390G>A
XM_011541981.2:c.509+15390G>A	XP_011540283.1:n.509+15390G>A
XM_011541983.2:c.20+15390G>A	XP_011540285.1:n.20+15390G>A
XM_011541984.2:c.509+15390G>A	XP_011540286.1:n.509+15390G>A
XM_011541985.2:c.509+15390G>A	XP_011540287.1:n.509+15390G>A
XM_011541986.3:c.509+15390G>A	XP_011540288.1:n.509+15390G>A
XM_011541987.2:c.-193+15390G>A	XP_011540289.1:n.-193+15390G>A
XM_017002109.2:c.509+15390G>A	XP_016857598.1:n.509+15390G>A
XM_017002110.1:c.509+15390G>A	XP_016857599.1:n.509+15390G>A
XM_017002113.1:c.302+15390G>A	XP_016857602.1:n.302+15390G>A
XM_017002114.1:c.-151-4434G>A	XP_016857603.1:n.-151-4434G>A
XM_017002115.1:c.-151-4434G>A	XP_016857604.1:n.-151-4434G>A
XM_017002116.1:c.20+15390G>A	XP_016857605.1:n.20+15390G>A
XM_017002120.1:c.-193+15390G>A	XP_016857609.1:n.-193+15390G>A
XM_017002121.1:c.-193+15390G>A	XP_016857610.1:n.-193+15390G>A
XR_001737368.1:n.702+15390G>A
XR_946742.2:n.702+15390G>A
XR_946743.2:n.702+15390G>A
XR_946744.2:n.702+15390G>A
XR_946745.2:n.702+15390G>A
NM_001270459.2:c.302+15390G>A	NP_001257388.1:n.302+15390G>A
NM_001270460.2:c.209+38768G>A	NP_001257389.1:n.209+38768G>A
NM_001270461.3:c.254+15390G>A	NP_001257390.1:n.254+15390G>A
NM_001270462.3:c.161+38768G>A	NP_001257391.1:n.161+38768G>A
NM_001270463.3:c.299+15390G>A	NP_001257392.1:n.299+15390G>A
NM_001270464.3:c.254+15390G>A	NP_001257393.1:n.254+15390G>A
NM_001350619.2:c.347+15390G>A	NP_001337548.1:n.347+15390G>A
NM_001350620.2:c.302+15390G>A	NP_001337549.1:n.302+15390G>A
NM_001350621.2:c.-151-4434G>A	NP_001337550.1:n.-151-4434G>A
NM_001363573.2:c.464+15390G>A	NP_001350502.1:n.464+15390G>A
NM_006279.5:c.302+15390G>A MANE Select	NP_006270.1:n.302+15390G>A
NM_174963.5:c.509+15390G>A	NP_777623.2:n.509+15390G>A
NM_174964.4:c.347+15390G>A	NP_777624.1:n.347+15390G>A
NM_174966.4:c.302+15390G>A	NP_777626.1:n.302+15390G>A
NM_174967.4:c.302+15390G>A	NP_777627.1:n.302+15390G>A
NM_174968.5:c.464+15390G>A	NP_777628.2:n.464+15390G>A
NM_174969.4:c.254+15390G>A	NP_777629.1:n.254+15390G>A
NM_174970.4:c.254+15390G>A	NP_777630.1:n.254+15390G>A
NM_174971.5:c.416+15390G>A	NP_777631.2:n.416+15390G>A
NR_073016.3:n.490+15390G>A
NR_073017.3:n.399+15390G>A
NR_073018.3:n.490+15390G>A
NR_073019.3:n.307-40682G>A
NR_073020.3:n.442+15390G>A
NR_073021.3:n.491-4434G>A
NR_073023.3:n.490+15390G>A
NR_146867.2:n.490+15390G>A
NM_001270465.3:c.299+15390G>A	NP_001257394.1:n.299+15390G>A
NM_001270466.3:c.254+15390G>A	NP_001257395.1:n.254+15390G>A
NM_174965.4:c.347+15390G>A	NP_777625.1:n.347+15390G>A

Linked Data

Genomic Alleles

Transcript Alleles