Canonical Allele Identifier: CA7644758

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2168891
• ClinVar RCV Id: RCV003100473 ; RCV004073239
• dbSNP Id: rs755973971
• ExAC: 15:72639002 T / C
• gnomAD v2: 15-72639002-T-C
• gnomAD v3: 15-72346661-T-C
• gnomAD v4: 15-72346661-T-C
• MyVariant Identifiers: chr15:g.72639002T>C (hg19) ; chr15:g.72346661T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346661T>C , CM000677.2:g.72346661T>C	GRCh38
NC_000015.9:g.72639002T>C , CM000677.1:g.72639002T>C	GRCh37
NC_000015.8:g.70426056T>C	NCBI36
NG_009017.1:g.34519A>G
NG_009017.2:g.34519A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-336A>G	ENSP00000457521.2:n.1074-336A>G
ENST00000682061.1:c.*858A>G	ENSP00000508316.1:n.*858A>G
ENST00000682064.1:n.538A>G
ENST00000682177.1:c.1239A>G	ENSP00000507409.1:n.1239A>G
ENST00000682235.1:n.535A>G
ENST00000682461.1:c.1302A>G	ENSP00000507308.1:n.1302A>G
ENST00000682653.1:n.1516A>G
ENST00000682657.1:c.*484-336A>G	ENSP00000507753.1:n.*484-336A>G
ENST00000682721.1:c.*999A>G	ENSP00000507535.1:n.*999A>G
ENST00000682843.1:c.*972-336A>G	ENSP00000508173.1:n.*972-336A>G
ENST00000683003.1:c.*484-336A>G	ENSP00000507576.1:n.*484-336A>G
ENST00000683133.1:c.1380A>G	ENSP00000508108.1:n.1380A>G
ENST00000683243.1:c.*484-336A>G	ENSP00000507042.1:n.*484-336A>G
ENST00000683463.1:c.*1A>G	ENSP00000507986.1:n.*1A>G
ENST00000683548.1:n.1105-336A>G
ENST00000683579.1:c.*1094A>G	ENSP00000506867.1:n.*1094A>G
ENST00000683587.1:n.1178-336A>G
ENST00000683681.1:c.1196A>G	ENSP00000508110.1:p.Asn399Ser
ENST00000683735.1:c.*1045-336A>G	ENSP00000508336.1:n.*1045-336A>G
ENST00000683853.1:c.*1A>G	ENSP00000506834.1:n.*1A>G
ENST00000683860.1:c.1196A>G	ENSP00000507179.1:p.Asn399Ser
ENST00000683884.1:c.1147-336A>G	ENSP00000507004.1:n.1147-336A>G
ENST00000684041.1:c.1196A>G	ENSP00000508382.1:p.Asn399Ser
ENST00000684125.1:c.1074-336A>G	ENSP00000507320.1:n.1074-336A>G
ENST00000684203.1:n.2961A>G
ENST00000684231.1:c.*606A>G	ENSP00000507748.1:n.*606A>G
ENST00000684263.1:c.*136A>G	ENSP00000508369.1:n.*136A>G
ENST00000684305.1:c.1644A>G	ENSP00000506819.1:n.1644A>G
ENST00000684415.1:c.*63A>G	ENSP00000507227.1:n.*63A>G
ENST00000684520.1:c.1196A>G	ENSP00000506826.1:p.Asn399Ser
ENST00000684602.1:c.*862A>G	ENSP00000507996.1:n.*862A>G
ENST00000684667.1:c.1527A>G	ENSP00000507003.1:n.1527A>G
ENST00000268097.10:c.1196A>G MANE Select	ENSP00000268097.6:p.Asn399Ser
ENST00000268097.9:c.1196A>G	ENSP00000268097.5:p.Asn399Ser
ENST00000379915.4:c.413-336A>G	ENSP00000478716.1:n.413-336A>G
ENST00000563762.5:c.826-336A>G	ENSP00000456346.1:n.826-336A>G
ENST00000566304.5:c.1229A>G	ENSP00000455114.1:p.Asn410Ser
ENST00000566672.5:c.*606A>G	ENSP00000457037.1:n.*606A>G
ENST00000567027.5:c.946-336A>G
ENST00000567159.5:c.1196A>G	ENSP00000456489.1:p.Asn399Ser
ENST00000567411.5:c.*717A>G	ENSP00000455545.1:n.*717A>G
ENST00000568777.5:n.6551-336A>G
ENST00000569410.5:c.*1A>G	ENSP00000457125.1:n.*1A>G
NM_000520.4:c.1196A>G	NP_000511.2:p.Asn399Ser
NM_000520.5:c.1196A>G	NP_000511.2:p.Asn399Ser
NM_001318825.1:c.1229A>G	NP_001305754.1:p.Asn410Ser
NR_134869.1:n.1575-336A>G
NM_000520.6:c.1196A>G MANE Select	NP_000511.2:p.Asn399Ser
NM_001318825.2:c.1229A>G	NP_001305754.1:p.Asn410Ser
NR_134869.2:n.1116-336A>G
NR_134869.3:n.1116-336A>G