Canonical Allele Identifier: CA116497

Gene: HEXA

Linked Data

• ClinVar Variation Id: 3895
• ClinVar RCV Id: RCV000004099 ; RCV000409695 ; RCV001800288
• dbSNP Id: rs121907955
• gnomAD v2: 15-72637802-C-T
• gnomAD v3: 15-72345461-C-T
• gnomAD v4: 15-72345461-C-T
• MyVariant Identifiers: chr15:g.72637802C>T (hg19) ; chr15:g.72345461C>T (hg38)
• PubMed: PMID:1827944 ; PMID:1996872 ; PMID:2140574 ; PMID:7837766 ; PMID:16088929 ; PMID:16698036 ; PMID:18490185 ; PMID:20100466 ; PMID:21567908

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345461C>T , CM000677.2:g.72345461C>T	GRCh38
NC_000015.9:g.72637802C>T , CM000677.1:g.72637802C>T	GRCh37
NC_000015.8:g.70424856C>T	NCBI36
NG_009017.1:g.35719G>A
NG_009017.2:g.35719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*171G>A	ENSP00000457521.2:n.*171G>A
ENST00000682061.1:c.*1857G>A	ENSP00000508316.1:n.*1857G>A
ENST00000682064.1:n.1738G>A
ENST00000682177.1:c.1554G>A	ENSP00000507409.1:n.1554G>A
ENST00000682235.1:n.1534G>A
ENST00000682461.1:c.1617G>A	ENSP00000507308.1:n.1617G>A
ENST00000682653.1:n.2515G>A
ENST00000682657.1:c.*1348G>A	ENSP00000507753.1:n.*1348G>A
ENST00000682721.1:c.*1314G>A	ENSP00000507535.1:n.*1314G>A
ENST00000682843.1:c.*1152G>A	ENSP00000508173.1:n.*1152G>A
ENST00000683003.1:c.*1348G>A	ENSP00000507576.1:n.*1348G>A
ENST00000683133.1:c.1695G>A	ENSP00000508108.1:n.1695G>A
ENST00000683243.1:c.*664G>A	ENSP00000507042.1:n.*664G>A
ENST00000683463.1:c.*1000G>A	ENSP00000507986.1:n.*1000G>A
ENST00000683548.1:n.1969G>A
ENST00000683579.1:c.*1409G>A	ENSP00000506867.1:n.*1409G>A
ENST00000683587.1:n.2042G>A
ENST00000683681.1:c.*189G>A	ENSP00000508110.1:n.*189G>A
ENST00000683735.1:c.*1909G>A	ENSP00000508336.1:n.*1909G>A
ENST00000683853.1:c.*316G>A	ENSP00000506834.1:n.*316G>A
ENST00000683860.1:c.*631G>A	ENSP00000507179.1:n.*631G>A
ENST00000683884.1:c.*838G>A	ENSP00000507004.1:n.*838G>A
ENST00000684125.1:c.*171G>A	ENSP00000507320.1:n.*171G>A
ENST00000684203.1:n.3960G>A
ENST00000684231.1:c.*921G>A	ENSP00000507748.1:n.*921G>A
ENST00000684263.1:c.*1135G>A	ENSP00000508369.1:n.*1135G>A
ENST00000684305.1:c.1959G>A	ENSP00000506819.1:n.1959G>A
ENST00000684415.1:c.*1062G>A	ENSP00000507227.1:n.*1062G>A
ENST00000684520.1:c.*770G>A	ENSP00000506826.1:n.*770G>A
ENST00000684602.1:c.*1177G>A	ENSP00000507996.1:n.*1177G>A
ENST00000684667.1:c.1842G>A	ENSP00000507003.1:n.1842G>A
ENST00000268097.10:c.1511G>A MANE Select	ENSP00000268097.6:p.Arg504His
ENST00000268097.9:c.1511G>A	ENSP00000268097.5:p.Arg504His
ENST00000379915.4:c.593G>A	ENSP00000478716.1:p.Arg198His
ENST00000564677.5:n.303G>A
ENST00000565873.1:n.422G>A
ENST00000566304.5:c.1544G>A	ENSP00000455114.1:p.Arg515His
ENST00000567027.5:c.1126G>A
ENST00000567159.5:c.1511G>A	ENSP00000456489.1:p.Arg504His
ENST00000567411.5:c.*1032G>A	ENSP00000455545.1:n.*1032G>A
ENST00000568777.5:n.6731G>A
ENST00000569116.1:n.218G>A
NM_000520.4:c.1511G>A	NP_000511.2:p.Arg504His
NM_000520.5:c.1511G>A	NP_000511.2:p.Arg504His
NM_001318825.1:c.1544G>A	NP_001305754.1:p.Arg515His
NR_134869.1:n.1755G>A
NM_000520.6:c.1511G>A MANE Select	NP_000511.2:p.Arg504His
NM_001318825.2:c.1544G>A	NP_001305754.1:p.Arg515His
NR_134869.2:n.1296G>A
NR_134869.3:n.1296G>A