Canonical Allele Identifier: CA814689
Gene: ST3GAL3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.43898238A>G
GRCh37 chr1:g.44363910A>G
Revel Score:
ENST00000361392 0.118
ENST00000361400 0.118
ENST00000262915 0.118
ENST00000372375 0.118
ENST00000351035 0.118
ENST00000372374 0.118
ENST00000353126 0.118
ENST00000335430 0.118
ENST00000347631 (MANE Select) 0.118
ENST00000372369 0.118
ENST00000361746 0.118
ENST00000372367 0.118
ENST00000372366 0.118
ENST00000372365 0.118
ENST00000372368 0.118
ENST00000372372 0.118
ENST00000528371 0.118
ENST00000531993 0.118
ENST00000533933 0.118
ENST00000332628 0.118
gnomAD v2:
1:44363910 A / G
gnomAD v3:
1:43898238 A / G
gnomAD v4:
chr1-43898238-A-G
Joint Max Group AF 0.00009193 (SAS)
Exomes Max Group AF 0.00009791 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43898238A>G , CM000663.2:g.43898238A>G GRCh38
NC_000001.10:g.44363910A>G , CM000663.1:g.44363910A>G GRCh37
NC_000001.9:g.44136497A>G NCBI36
NG_028196.1:g.195693A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262915.8:c.608A>G ENSP00000262915.3:p.Asn203Ser
ENST00000332628.11:c.187A>G
ENST00000347631.8:c.401A>G MANE Select ENSP00000317192.6:p.Asn134Ser
ENST00000351035.8:c.563A>G ENSP00000316999.6:p.Asn188Ser
ENST00000353126.8:c.401A>G ENSP00000330463.3:p.Asn134Ser
ENST00000361392.9:c.446A>G ENSP00000355341.5:p.Asn149Ser
ENST00000361400.9:c.353A>G ENSP00000354748.4:p.Asn118Ser
ENST00000361746.9:c.494A>G ENSP00000354657.5:p.Asn165Ser
ENST00000361812.9:c.442+3761A>G ENSP00000355201.4:n.442+3761A>G
ENST00000372366.6:c.398A>G ENSP00000361441.1:p.Asn133Ser
ENST00000372368.7:c.563A>G ENSP00000361443.3:p.Asn188Ser
ENST00000372372.7:c.515A>G ENSP00000361447.2:p.Asn172Ser
ENST00000372374.7:c.308A>G ENSP00000361449.2:p.Asn103Ser
ENST00000461375.2:n.278A>G
ENST00000469715.6:c.217A>G ENSP00000431700.2:p.Ile73Val
ENST00000489897.6:c.*209A>G ENSP00000437206.1:n.*209A>G
ENST00000490541.6:c.310A>G ENSP00000435018.2:n.310A>G
ENST00000531993.6:c.260A>G ENSP00000432682.2:p.Asn87Ser
ENST00000533933.6:c.344A>G ENSP00000432965.2:p.Asn115Ser
ENST00000533997.6:c.*226A>G ENSP00000432071.1:n.*226A>G
ENST00000642194.1:c.442+3761A>G ENSP00000493708.1:n.442+3761A>G
ENST00000642331.1:c.446A>G ENSP00000493823.1:p.Asn149Ser
ENST00000642504.1:c.*226A>G ENSP00000494857.1:n.*226A>G
ENST00000642780.1:c.199A>G
ENST00000642934.1:c.353A>G ENSP00000494146.1:p.Asn118Ser
ENST00000642949.1:c.401A>G ENSP00000495709.1:p.Asn134Ser
ENST00000643252.1:c.401A>G ENSP00000495333.1:p.Asn134Ser
ENST00000643283.1:c.446A>G ENSP00000494746.1:p.Asn149Ser
ENST00000643597.1:c.353A>G ENSP00000495977.1:p.Asn118Ser
ENST00000643813.1:c.446A>G ENSP00000496646.1:n.446A>G
ENST00000644016.1:n.339A>G
ENST00000644195.1:c.401A>G ENSP00000494201.1:p.Asn134Ser
ENST00000644287.1:c.295A>G
ENST00000644378.1:n.245A>G
ENST00000644645.1:c.161A>G ENSP00000495647.1:p.Asn54Ser
ENST00000644922.1:c.368A>G ENSP00000496289.1:p.Asn123Ser
ENST00000645034.1:c.401A>G ENSP00000496350.1:p.Asn134Ser
ENST00000645057.1:c.*1723A>G ENSP00000494063.1:n.*1723A>G
ENST00000645117.1:c.337A>G
ENST00000645142.1:c.401A>G ENSP00000496550.1:p.Asn134Ser
ENST00000645161.1:c.97A>G
ENST00000645165.1:c.*209A>G ENSP00000493660.1:n.*209A>G
ENST00000645394.1:c.308A>G ENSP00000495299.1:p.Asn103Ser
ENST00000645640.1:c.*209A>G ENSP00000494852.1:n.*209A>G
ENST00000645644.1:n.363A>G
ENST00000645705.1:c.258A>G ENSP00000496492.1:p.Gln86=
ENST00000646027.1:c.353A>G ENSP00000494396.1:p.Asn118Ser
ENST00000646032.1:c.1A>G
ENST00000646069.1:c.308A>G ENSP00000496585.1:p.Asn103Ser
ENST00000646686.1:c.353A>G ENSP00000495683.1:p.Asn118Ser
ENST00000646971.1:c.401A>G ENSP00000495887.1:p.Asn134Ser
ENST00000647128.1:c.*111-31894A>G ENSP00000494374.1:n.*111-31894A>G
ENST00000647134.1:c.*226A>G ENSP00000495797.1:n.*226A>G
ENST00000647148.1:c.401A>G ENSP00000495939.1:p.Asn134Ser
ENST00000647237.1:c.563A>G ENSP00000495624.1:p.Asn188Ser
ENST00000647299.1:n.294A>G
ENST00000647482.1:c.424A>G ENSP00000495567.1:p.Ile142Val
ENST00000647503.1:c.283A>G
ENST00000262915.7:c.608A>G ENSP00000262915.3:p.Asn203Ser
ENST00000330208.6:c.255-31894A>G ENSP00000333494.3:n.255-31894A>G
ENST00000332628.10:c.308A>G ENSP00000329755.6:p.Asn103Ser
ENST00000335430.10:c.398A>G ENSP00000335633.7:p.Asn133Ser
ENST00000347631.6:c.446A>G ENSP00000317192.4:p.Asn149Ser
ENST00000351035.7:c.515A>G ENSP00000316999.5:p.Asn172Ser
ENST00000353126.7:c.401A>G ENSP00000330463.3:p.Asn134Ser
ENST00000361392.8:c.401A>G ENSP00000355341.4:p.Asn134Ser
ENST00000361400.8:c.353A>G ENSP00000354748.4:p.Asn118Ser
ENST00000361746.8:c.608A>G ENSP00000354657.4:p.Asn203Ser
ENST00000361812.8:c.442+3761A>G ENSP00000355201.4:n.442+3761A>G
ENST00000372362.6:c.397+3761A>G ENSP00000361437.2:n.397+3761A>G
ENST00000372365.5:c.401A>G ENSP00000361440.1:p.Asn134Ser
ENST00000372366.5:c.398A>G ENSP00000361441.1:p.Asn133Ser
ENST00000372367.5:c.398A>G ENSP00000361442.1:p.Asn133Ser
ENST00000372368.6:c.563A>G ENSP00000361443.2:p.Asn188Ser
ENST00000372369.5:c.401A>G ENSP00000361444.1:p.Asn134Ser
ENST00000372372.6:c.515A>G ENSP00000361447.2:p.Asn172Ser
ENST00000372374.6:c.308A>G ENSP00000361449.2:p.Asn103Ser
ENST00000461375.1:n.277A>G
ENST00000469715.5:c.401A>G ENSP00000431700.1:p.Asn134Ser
ENST00000489897.5:c.*209A>G ENSP00000437206.1:n.*209A>G
ENST00000490541.5:c.217A>G ENSP00000435018.1:p.Ile73Val
ENST00000528371.5:c.353A>G ENSP00000434876.1:p.Asn118Ser
ENST00000530154.5:c.*458A>G ENSP00000434686.1:n.*458A>G
ENST00000530581.5:c.353A>G ENSP00000437293.1:p.Asn118Ser
ENST00000531451.5:c.349+3761A>G ENSP00000435603.1:n.349+3761A>G
ENST00000531816.1:c.255-31894A>G ENSP00000434378.1:n.255-31894A>G
ENST00000531993.5:c.353A>G ENSP00000432682.1:p.Asn118Ser
ENST00000533212.5:c.397+3761A>G ENSP00000435621.1:n.397+3761A>G
ENST00000533933.5:c.401A>G ENSP00000432965.1:p.Asn134Ser
ENST00000533997.5:c.574A>G ENSP00000432071.1:n.574A>G
ENST00000545417.5:c.442+3761A>G ENSP00000439634.1:n.442+3761A>G
NM_001270459.1:c.401A>G NP_001257388.1:p.Asn134Ser
NM_001270460.1:c.308A>G NP_001257389.1:p.Asn103Ser
NM_001270461.1:c.353A>G NP_001257390.1:p.Asn118Ser
NM_001270462.1:c.260A>G NP_001257391.1:p.Asn87Ser
NM_001270463.1:c.398A>G NP_001257392.1:p.Asn133Ser
NM_001270464.1:c.353A>G NP_001257393.1:p.Asn118Ser
NM_001270465.1:c.398A>G NP_001257394.1:p.Asn133Ser
NM_001270466.1:c.255-31894A>G NP_001257395.1:n.255-31894A>G
NM_006279.3:c.401A>G NP_006270.1:p.Asn134Ser
NM_174963.3:c.608A>G NP_777623.2:p.Asn203Ser
NM_174964.2:c.446A>G NP_777624.1:p.Asn149Ser
NM_174965.2:c.442+3761A>G NP_777625.1:n.442+3761A>G
NM_174966.2:c.401A>G NP_777626.1:p.Asn134Ser
NM_174967.2:c.397+3761A>G NP_777627.1:n.397+3761A>G
NM_174968.3:c.563A>G NP_777628.2:p.Asn188Ser
NM_174969.2:c.353A>G NP_777629.1:p.Asn118Ser
NM_174970.2:c.349+3761A>G NP_777630.1:n.349+3761A>G
NM_174971.3:c.515A>G NP_777631.2:p.Asn172Ser
NR_073016.1:n.592A>G
NR_073017.1:n.501A>G
NR_073018.1:n.765A>G
NR_073019.1:n.408A>G
NR_073020.1:n.544A>G
NR_073021.1:n.766A>G
NR_073023.1:n.588+3761A>G
XM_006710825.2:c.401A>G XP_006710888.1:p.Asn134Ser
XM_006710826.2:c.398A>G XP_006710889.1:p.Asn133Ser
XM_006710827.2:c.353A>G XP_006710890.1:p.Asn118Ser
XM_006710828.2:c.122A>G XP_006710891.1:p.Asn41Ser
XM_006710829.2:c.80A>G XP_006710892.1:p.Asn27Ser
XM_011541972.1:c.608A>G XP_011540274.1:p.Asn203Ser
XM_011541973.1:c.608A>G XP_011540275.1:p.Asn203Ser
XM_011541974.1:c.563A>G XP_011540276.1:p.Asn188Ser
XM_011541975.1:c.560A>G XP_011540277.1:p.Asn187Ser
XM_011541976.1:c.515A>G XP_011540278.1:p.Asn172Ser
XM_011541977.1:c.446A>G XP_011540279.1:p.Asn149Ser
XM_011541978.1:c.440A>G XP_011540280.1:p.Asn147Ser
XM_011541979.1:c.278A>G XP_011540281.1:p.Asn93Ser
XM_011541980.1:c.236A>G XP_011540282.1:p.Asn79Ser
XM_011541981.1:c.608A>G XP_011540283.1:p.Asn203Ser
XM_011541982.1:c.122A>G XP_011540284.1:p.Asn41Ser
XM_011541983.1:c.119A>G XP_011540285.1:p.Asn40Ser
XM_011541984.1:c.608A>G XP_011540286.1:p.Asn203Ser
XM_011541985.1:c.608A>G XP_011540287.1:p.Asn203Ser
XM_011541986.1:c.608A>G XP_011540288.1:p.Asn203Ser
XM_011541987.1:c.80A>G XP_011540289.1:p.Asn27Ser
XM_011541988.1:c.80A>G XP_011540290.1:p.Asn27Ser
XM_011541989.1:c.608A>G XP_011540291.1:p.Asn203Ser
XM_011541990.1:c.-271A>G XP_011540292.1:n.-271A>G
XR_946742.1:n.799A>G
XR_946743.1:n.799A>G
XR_946744.1:n.799A>G
XR_946745.1:n.802A>G
NM_001270461.2:c.353A>G NP_001257390.1:p.Asn118Ser
NM_001270462.2:c.260A>G NP_001257391.1:p.Asn87Ser
NM_001270463.2:c.398A>G NP_001257392.1:p.Asn133Ser
NM_001270464.2:c.353A>G NP_001257393.1:p.Asn118Ser
NM_001270465.2:c.398A>G NP_001257394.1:p.Asn133Ser
NM_001270466.2:c.255-31894A>G NP_001257395.1:n.255-31894A>G
NM_001350619.1:c.446A>G NP_001337548.1:p.Asn149Ser
NM_001350620.1:c.401A>G NP_001337549.1:p.Asn134Ser
NM_001350621.1:c.122A>G NP_001337550.1:p.Asn41Ser
NM_001363573.1:c.563A>G NP_001350502.1:p.Asn188Ser
NM_006279.4:c.401A>G NP_006270.1:p.Asn134Ser
NM_174963.4:c.608A>G NP_777623.2:p.Asn203Ser
NM_174964.3:c.446A>G NP_777624.1:p.Asn149Ser
NM_174965.3:c.442+3761A>G NP_777625.1:n.442+3761A>G
NM_174966.3:c.401A>G NP_777626.1:p.Asn134Ser
NM_174967.3:c.397+3761A>G NP_777627.1:n.397+3761A>G
NM_174968.4:c.563A>G NP_777628.2:p.Asn188Ser
NM_174969.3:c.353A>G NP_777629.1:p.Asn118Ser
NM_174970.3:c.349+3761A>G NP_777630.1:n.349+3761A>G
NM_174971.4:c.515A>G NP_777631.2:p.Asn172Ser
NR_073016.2:n.628A>G
NR_073017.2:n.537A>G
NR_073018.2:n.801A>G
NR_073019.2:n.444A>G
NR_073020.2:n.580A>G
NR_073021.2:n.802A>G
NR_073023.2:n.624+3761A>G
NR_146867.1:n.628A>G
XM_006710827.4:c.353A>G XP_006710890.1:p.Asn118Ser
XM_011541973.2:c.608A>G XP_011540275.1:p.Asn203Ser
XM_011541974.2:c.563A>G XP_011540276.1:p.Asn188Ser
XM_011541976.2:c.515A>G XP_011540278.1:p.Asn172Ser
XM_011541980.3:c.236A>G XP_011540282.1:p.Asn79Ser
XM_011541981.2:c.608A>G XP_011540283.1:p.Asn203Ser
XM_011541983.2:c.119A>G XP_011540285.1:p.Asn40Ser
XM_011541984.2:c.608A>G XP_011540286.1:p.Asn203Ser
XM_011541985.2:c.608A>G XP_011540287.1:p.Asn203Ser
XM_011541986.3:c.608A>G XP_011540288.1:p.Asn203Ser
XM_011541987.2:c.80A>G XP_011540289.1:p.Asn27Ser
XM_011541988.2:c.80A>G XP_011540290.1:p.Asn27Ser
XM_017002109.2:c.608A>G XP_016857598.1:p.Asn203Ser
XM_017002110.1:c.608A>G XP_016857599.1:p.Asn203Ser
XM_017002113.1:c.401A>G XP_016857602.1:p.Asn134Ser
XM_017002114.1:c.122A>G XP_016857603.1:p.Asn41Ser
XM_017002115.1:c.122A>G XP_016857604.1:p.Asn41Ser
XM_017002116.1:c.119A>G XP_016857605.1:p.Asn40Ser
XM_017002120.1:c.80A>G XP_016857609.1:p.Asn27Ser
XM_017002121.1:c.80A>G XP_016857610.1:p.Asn27Ser
XR_001737368.1:n.801A>G
XR_946742.2:n.801A>G
XR_946743.2:n.801A>G
XR_946744.2:n.801A>G
XR_946745.2:n.801A>G
NM_001270459.2:c.401A>G NP_001257388.1:p.Asn134Ser
NM_001270460.2:c.308A>G NP_001257389.1:p.Asn103Ser
NM_001270461.3:c.353A>G NP_001257390.1:p.Asn118Ser
NM_001270462.3:c.260A>G NP_001257391.1:p.Asn87Ser
NM_001270463.3:c.398A>G NP_001257392.1:p.Asn133Ser
NM_001270464.3:c.353A>G NP_001257393.1:p.Asn118Ser
NM_001350619.2:c.446A>G NP_001337548.1:p.Asn149Ser
NM_001350620.2:c.401A>G NP_001337549.1:p.Asn134Ser
NM_001350621.2:c.122A>G NP_001337550.1:p.Asn41Ser
NM_001363573.2:c.563A>G NP_001350502.1:p.Asn188Ser
NM_006279.5:c.401A>G MANE Select NP_006270.1:p.Asn134Ser
NM_174963.5:c.608A>G NP_777623.2:p.Asn203Ser
NM_174964.4:c.446A>G NP_777624.1:p.Asn149Ser
NM_174966.4:c.401A>G NP_777626.1:p.Asn134Ser
NM_174967.4:c.397+3761A>G NP_777627.1:n.397+3761A>G
NM_174968.5:c.563A>G NP_777628.2:p.Asn188Ser
NM_174969.4:c.353A>G NP_777629.1:p.Asn118Ser
NM_174970.4:c.349+3761A>G NP_777630.1:n.349+3761A>G
NM_174971.5:c.515A>G NP_777631.2:p.Asn172Ser
NR_073016.3:n.589A>G
NR_073017.3:n.498A>G
NR_073018.3:n.762A>G
NR_073019.3:n.405A>G
NR_073020.3:n.541A>G
NR_073021.3:n.763A>G
NR_073023.3:n.585+3761A>G
NR_146867.2:n.589A>G
NM_001270465.3:c.398A>G NP_001257394.1:p.Asn133Ser
NM_001270466.3:c.255-31894A>G NP_001257395.1:n.255-31894A>G
NM_174965.4:c.442+3761A>G NP_777625.1:n.442+3761A>G
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