Canonical Allele Identifier: CA814909

Gene: ST3GAL3

Linked Data

• ClinVar Variation Id: 436877
• ClinVar RCV Id: RCV000501339 ; RCV000763925 ; RCV000636382 ; RCV002524302
• dbSNP Id: rs141947405
• ExAC: 1:44395835 A / T
• gnomAD v2: 1-44395835-A-T
• gnomAD v3: 1-43930163-A-T
• gnomAD v4: 1-43930163-A-T
• MyVariant Identifiers: chr1:g.44395835A>T (hg19) ; chr1:g.43930163A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43930163A>T , CM000663.2:g.43930163A>T	GRCh38
NC_000001.10:g.44395835A>T , CM000663.1:g.44395835A>T	GRCh37
NC_000001.9:g.44168422A>T	NCBI36
NG_028196.1:g.227618A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262915.8:c.1277A>T	ENSP00000262915.3:p.Glu426Val
ENST00000332628.11:c.856A>T
ENST00000347631.8:c.1070A>T MANE Select	ENSP00000317192.6:p.Glu357Val
ENST00000351035.8:c.1232A>T	ENSP00000316999.6:p.Glu411Val
ENST00000353126.8:c.776A>T	ENSP00000330463.3:p.Glu259Val
ENST00000361392.9:c.1115A>T	ENSP00000355341.5:p.Glu372Val
ENST00000361400.9:c.1022A>T	ENSP00000354748.4:p.Glu341Val
ENST00000361746.9:c.1163A>T	ENSP00000354657.5:p.Glu388Val
ENST00000361812.9:c.474A>T	ENSP00000355201.4:p.Arg158Ser
ENST00000372366.6:c.612A>T	ENSP00000361441.1:n.612A>T
ENST00000372368.7:c.1085A>T	ENSP00000361443.3:p.Glu362Val
ENST00000372372.7:c.1184A>T	ENSP00000361447.2:p.Glu395Val
ENST00000372374.7:c.977A>T	ENSP00000361449.2:p.Glu326Val
ENST00000469715.6:c.918A>T	ENSP00000431700.2:n.918A>T
ENST00000489897.6:c.*397A>T	ENSP00000437206.1:n.*397A>T
ENST00000490541.6:c.979A>T	ENSP00000435018.2:n.979A>T
ENST00000495482.2:n.1617A>T
ENST00000531993.6:c.635A>T	ENSP00000432682.2:p.Glu212Val
ENST00000533933.6:c.866A>T	ENSP00000432965.2:p.Glu289Val
ENST00000533997.6:c.*601A>T	ENSP00000432071.1:n.*601A>T
ENST00000642194.1:c.*267A>T	ENSP00000493708.1:n.*267A>T
ENST00000642331.1:c.1311A>T	ENSP00000493823.1:p.Arg437Ser
ENST00000642504.1:c.*895A>T	ENSP00000494857.1:n.*895A>T
ENST00000642780.1:c.894A>T
ENST00000642934.1:c.728A>T	ENSP00000494146.1:p.Glu243Val
ENST00000642949.1:c.*532A>T	ENSP00000495709.1:n.*532A>T
ENST00000643252.1:c.1266A>T	ENSP00000495333.1:p.Arg422Ser
ENST00000643283.1:c.*532A>T	ENSP00000494746.1:n.*532A>T
ENST00000643597.1:c.*220A>T	ENSP00000495977.1:n.*220A>T
ENST00000643813.1:c.1115A>T	ENSP00000496646.1:n.1115A>T
ENST00000644016.1:n.1040A>T
ENST00000644195.1:c.1070A>T	ENSP00000494201.1:p.Glu357Val
ENST00000644287.1:c.976A>T
ENST00000644378.1:n.620A>T
ENST00000644645.1:c.562A>T	ENSP00000495647.1:n.562A>T
ENST00000644922.1:c.743A>T	ENSP00000496289.1:p.Glu248Val
ENST00000645012.1:n.718A>T
ENST00000645057.1:c.*2392A>T	ENSP00000494063.1:n.*2392A>T
ENST00000645117.1:c.551A>T
ENST00000645142.1:c.*728A>T	ENSP00000496550.1:n.*728A>T
ENST00000645165.1:c.*878A>T	ENSP00000493660.1:n.*878A>T
ENST00000645394.1:c.*532A>T	ENSP00000495299.1:n.*532A>T
ENST00000645640.1:c.*1074A>T	ENSP00000494852.1:n.*1074A>T
ENST00000645644.1:n.1032A>T
ENST00000645670.1:n.1824A>T
ENST00000645705.1:c.*730A>T	ENSP00000496492.1:n.*730A>T
ENST00000646027.1:c.*148A>T	ENSP00000494396.1:n.*148A>T
ENST00000646069.1:c.*126A>T	ENSP00000496585.1:n.*126A>T
ENST00000646686.1:c.1218A>T	ENSP00000495683.1:p.Arg406Ser
ENST00000646971.1:c.1070A>T	ENSP00000495887.1:p.Glu357Val
ENST00000647128.1:c.*142A>T	ENSP00000494374.1:n.*142A>T
ENST00000647134.1:c.*895A>T	ENSP00000495797.1:n.*895A>T
ENST00000647148.1:c.1197A>T	ENSP00000495939.1:p.Arg399Ser
ENST00000647237.1:c.938A>T	ENSP00000495624.1:p.Glu313Val
ENST00000647482.1:c.*664A>T	ENSP00000495567.1:n.*664A>T
ENST00000647503.1:c.471A>T
ENST00000262915.7:c.1277A>T	ENSP00000262915.3:p.Glu426Val
ENST00000330208.6:c.286A>T	ENSP00000333494.3:p.Ser96Cys
ENST00000332628.10:c.977A>T	ENSP00000329755.6:p.Glu326Val
ENST00000335430.10:c.*54A>T	ENSP00000335633.7:n.*54A>T
ENST00000347631.6:c.1115A>T	ENSP00000317192.4:p.Glu372Val
ENST00000351035.7:c.1184A>T	ENSP00000316999.5:p.Glu395Val
ENST00000353126.7:c.776A>T	ENSP00000330463.3:p.Glu259Val
ENST00000361392.8:c.1070A>T	ENSP00000355341.4:p.Glu357Val
ENST00000361400.8:c.1022A>T	ENSP00000354748.4:p.Glu341Val
ENST00000361746.8:c.1277A>T	ENSP00000354657.4:p.Glu426Val
ENST00000361812.8:c.474A>T	ENSP00000355201.4:p.Arg158Ser
ENST00000372362.6:c.429A>T	ENSP00000361437.2:p.Arg143Ser
ENST00000372365.5:c.615A>T	ENSP00000361440.1:n.615A>T
ENST00000372366.5:c.612A>T	ENSP00000361441.1:n.612A>T
ENST00000372367.5:c.586A>T	ENSP00000361442.1:p.Ser196Cys
ENST00000372368.6:c.1232A>T	ENSP00000361443.2:p.Glu411Val
ENST00000372369.5:c.980A>T	ENSP00000361444.1:p.Glu327Val
ENST00000372372.6:c.1184A>T	ENSP00000361447.2:p.Glu395Val
ENST00000372374.6:c.977A>T	ENSP00000361449.2:p.Glu326Val
ENST00000469715.5:c.1102A>T	ENSP00000431700.1:n.1102A>T
ENST00000489897.5:c.*397A>T	ENSP00000437206.1:n.*397A>T
ENST00000490502.1:c.579A>T
ENST00000490541.5:c.918A>T	ENSP00000435018.1:n.918A>T
ENST00000495482.1:n.607A>T
ENST00000528371.5:c.541A>T	ENSP00000434876.1:p.Ser181Cys
ENST00000530581.5:c.835A>T	ENSP00000437293.1:n.835A>T
ENST00000531451.5:c.381A>T	ENSP00000435603.1:p.Arg127Ser
ENST00000531816.1:c.286A>T	ENSP00000434378.1:p.Ser96Cys
ENST00000531993.5:c.728A>T	ENSP00000432682.1:p.Glu243Val
ENST00000533212.5:c.723A>T	ENSP00000435621.1:n.723A>T
ENST00000533933.5:c.776A>T	ENSP00000432965.1:p.Glu259Val
ENST00000533997.5:c.949A>T	ENSP00000432071.1:n.949A>T
ENST00000545417.5:c.474A>T	ENSP00000439634.1:p.Arg158Ser
NM_001270459.1:c.980A>T	NP_001257388.1:p.Glu327Val
NM_001270460.1:c.977A>T	NP_001257389.1:p.Glu326Val
NM_001270461.1:c.728A>T	NP_001257390.1:p.Glu243Val
NM_001270462.1:c.635A>T	NP_001257391.1:p.Glu212Val
NM_001270463.1:c.586A>T	NP_001257392.1:p.Ser196Cys
NM_001270464.1:c.541A>T	NP_001257393.1:p.Ser181Cys
NM_001270465.1:c.*54A>T	NP_001257394.1:n.*54A>T
NM_001270466.1:c.286A>T	NP_001257395.1:p.Ser96Cys
NM_006279.3:c.1070A>T	NP_006270.1:p.Glu357Val
NM_174963.3:c.1277A>T	NP_777623.2:p.Glu426Val
NM_174964.2:c.1115A>T	NP_777624.1:p.Glu372Val
NM_174965.2:c.474A>T	NP_777625.1:p.Arg158Ser
NM_174966.2:c.776A>T	NP_777626.1:p.Glu259Val
NM_174967.2:c.429A>T	NP_777627.1:p.Arg143Ser
NM_174968.3:c.1232A>T	NP_777628.2:p.Glu411Val
NM_174969.2:c.1022A>T	NP_777629.1:p.Glu341Val
NM_174970.2:c.381A>T	NP_777630.1:p.Arg127Ser
NM_174971.3:c.1184A>T	NP_777631.2:p.Glu395Val
NR_073016.1:n.1293A>T
NR_073017.1:n.1170A>T
NR_073018.1:n.1140A>T
NR_073019.1:n.1109A>T
NR_073020.1:n.1026A>T
NR_073021.1:n.954A>T
NR_073023.1:n.914A>T
XM_006710825.2:c.1266A>T	XP_006710888.1:p.Arg422Ser
XM_006710826.2:c.1263A>T	XP_006710889.1:p.Arg421Ser
XM_006710827.2:c.1218A>T	XP_006710890.1:p.Arg406Ser
XM_006710828.2:c.987A>T	XP_006710891.1:p.Arg329Ser
XM_006710829.2:c.945A>T	XP_006710892.1:p.Arg315Ser
XM_011541972.1:c.1473A>T	XP_011540274.1:p.Arg491Ser
XM_011541974.1:c.1428A>T	XP_011540276.1:p.Arg476Ser
XM_011541975.1:c.1425A>T	XP_011540277.1:p.Arg475Ser
XM_011541976.1:c.1380A>T	XP_011540278.1:p.Arg460Ser
XM_011541977.1:c.1311A>T	XP_011540279.1:p.Arg437Ser
XM_011541978.1:c.1305A>T	XP_011540280.1:p.Arg435Ser
XM_011541979.1:c.1143A>T	XP_011540281.1:p.Arg381Ser
XM_011541980.1:c.1101A>T	XP_011540282.1:p.Arg367Ser
XM_011541981.1:c.983A>T	XP_011540283.1:p.Glu328Val
XM_011541982.1:c.987A>T	XP_011540284.1:p.Arg329Ser
XM_011541983.1:c.984A>T	XP_011540285.1:p.Arg328Ser
XM_011541987.1:c.945A>T	XP_011540289.1:p.Arg315Ser
XM_011541988.1:c.945A>T	XP_011540290.1:p.Arg315Ser
XM_011541989.1:c.*54A>T	XP_011540291.1:n.*54A>T
XM_011541990.1:c.627A>T	XP_011540292.1:p.Arg209Ser
NM_001270461.2:c.728A>T	NP_001257390.1:p.Glu243Val
NM_001270462.2:c.635A>T	NP_001257391.1:p.Glu212Val
NM_001270463.2:c.586A>T	NP_001257392.1:p.Ser196Cys
NM_001270464.2:c.541A>T	NP_001257393.1:p.Ser181Cys
NM_001270465.2:c.*54A>T	NP_001257394.1:n.*54A>T
NM_001270466.2:c.286A>T	NP_001257395.1:p.Ser96Cys
NM_001350619.1:c.1311A>T	NP_001337548.1:p.Arg437Ser
NM_001350620.1:c.1266A>T	NP_001337549.1:p.Arg422Ser
NM_001350621.1:c.987A>T	NP_001337550.1:p.Arg329Ser
NM_001363573.1:c.938A>T	NP_001350502.1:p.Glu313Val
NM_006279.4:c.1070A>T	NP_006270.1:p.Glu357Val
NM_174963.4:c.1277A>T	NP_777623.2:p.Glu426Val
NM_174964.3:c.1115A>T	NP_777624.1:p.Glu372Val
NM_174965.3:c.474A>T	NP_777625.1:p.Arg158Ser
NM_174966.3:c.776A>T	NP_777626.1:p.Glu259Val
NM_174967.3:c.429A>T	NP_777627.1:p.Arg143Ser
NM_174968.4:c.1232A>T	NP_777628.2:p.Glu411Val
NM_174969.3:c.1022A>T	NP_777629.1:p.Glu341Val
NM_174970.3:c.381A>T	NP_777630.1:p.Arg127Ser
NM_174971.4:c.1184A>T	NP_777631.2:p.Glu395Val
NR_073016.2:n.1329A>T
NR_073017.2:n.1206A>T
NR_073018.2:n.1176A>T
NR_073019.2:n.1145A>T
NR_073020.2:n.1062A>T
NR_073021.2:n.990A>T
NR_073023.2:n.950A>T
NR_146867.1:n.1525A>T
XM_006710827.4:c.1218A>T	XP_006710890.1:p.Arg406Ser
XM_011541974.2:c.1428A>T	XP_011540276.1:p.Arg476Ser
XM_011541976.2:c.1380A>T	XP_011540278.1:p.Arg460Ser
XM_011541980.3:c.1101A>T	XP_011540282.1:p.Arg367Ser
XM_011541981.2:c.983A>T	XP_011540283.1:p.Glu328Val
XM_011541983.2:c.984A>T	XP_011540285.1:p.Arg328Ser
XM_011541987.2:c.945A>T	XP_011540289.1:p.Arg315Ser
XM_011541988.2:c.945A>T	XP_011540290.1:p.Arg315Ser
XM_017002109.2:c.1473A>T	XP_016857598.1:p.Arg491Ser
XM_017002113.1:c.1070A>T	XP_016857602.1:p.Glu357Val
XM_017002114.1:c.987A>T	XP_016857603.1:p.Arg329Ser
XM_017002115.1:c.987A>T	XP_016857604.1:p.Arg329Ser
XM_017002116.1:c.984A>T	XP_016857605.1:p.Arg328Ser
XM_017002120.1:c.749A>T	XP_016857609.1:p.Glu250Val
XM_017002121.1:c.749A>T	XP_016857610.1:p.Glu250Val
XR_946745.2:n.1502A>T
NM_001270459.2:c.980A>T	NP_001257388.1:p.Glu327Val
NM_001270460.2:c.977A>T	NP_001257389.1:p.Glu326Val
NM_001270461.3:c.728A>T	NP_001257390.1:p.Glu243Val
NM_001270462.3:c.635A>T	NP_001257391.1:p.Glu212Val
NM_001270463.3:c.586A>T	NP_001257392.1:p.Ser196Cys
NM_001270464.3:c.541A>T	NP_001257393.1:p.Ser181Cys
NM_001350619.2:c.1311A>T	NP_001337548.1:p.Arg437Ser
NM_001350620.2:c.1266A>T	NP_001337549.1:p.Arg422Ser
NM_001350621.2:c.987A>T	NP_001337550.1:p.Arg329Ser
NM_001363573.2:c.938A>T	NP_001350502.1:p.Glu313Val
NM_006279.5:c.1070A>T MANE Select	NP_006270.1:p.Glu357Val
NM_174963.5:c.1277A>T	NP_777623.2:p.Glu426Val
NM_174964.4:c.1115A>T	NP_777624.1:p.Glu372Val
NM_174966.4:c.776A>T	NP_777626.1:p.Glu259Val
NM_174967.4:c.429A>T	NP_777627.1:p.Arg143Ser
NM_174968.5:c.1232A>T	NP_777628.2:p.Glu411Val
NM_174969.4:c.1022A>T	NP_777629.1:p.Glu341Val
NM_174970.4:c.381A>T	NP_777630.1:p.Arg127Ser
NM_174971.5:c.1184A>T	NP_777631.2:p.Glu395Val
NR_073016.3:n.1290A>T
NR_073017.3:n.1167A>T
NR_073018.3:n.1137A>T
NR_073019.3:n.1106A>T
NR_073020.3:n.1023A>T
NR_073021.3:n.951A>T
NR_073023.3:n.911A>T
NR_146867.2:n.1486A>T
NM_001270465.3:c.*54A>T	NP_001257394.1:n.*54A>T
NM_001270466.3:c.286A>T	NP_001257395.1:p.Ser96Cys
NM_174965.4:c.474A>T	NP_777625.1:p.Arg158Ser