Canonical Allele Identifier: CA7644668

Gene: HEXA

Linked Data

• ClinVar Variation Id: 554871
• ClinVar RCV Id: RCV000670579
• dbSNP Id: rs761736583
• ExAC: 15:72637838 T / C
• gnomAD v2: 15-72637838-T-C
• gnomAD v3: 15-72345497-T-C
• gnomAD v4: 15-72345497-T-C
• MyVariant Identifiers: chr15:g.72637838T>C (hg19) ; chr15:g.72345497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345497T>C , CM000677.2:g.72345497T>C	GRCh38
NC_000015.9:g.72637838T>C , CM000677.1:g.72637838T>C	GRCh37
NC_000015.8:g.70424892T>C	NCBI36
NG_009017.1:g.35683A>G
NG_009017.2:g.35683A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*135A>G	ENSP00000457521.2:n.*135A>G
ENST00000682061.1:c.*1821A>G	ENSP00000508316.1:n.*1821A>G
ENST00000682064.1:n.1702A>G
ENST00000682177.1:c.1518A>G	ENSP00000507409.1:n.1518A>G
ENST00000682235.1:n.1498A>G
ENST00000682461.1:c.1581A>G	ENSP00000507308.1:n.1581A>G
ENST00000682653.1:n.2479A>G
ENST00000682657.1:c.*1312A>G	ENSP00000507753.1:n.*1312A>G
ENST00000682721.1:c.*1278A>G	ENSP00000507535.1:n.*1278A>G
ENST00000682843.1:c.*1116A>G	ENSP00000508173.1:n.*1116A>G
ENST00000683003.1:c.*1312A>G	ENSP00000507576.1:n.*1312A>G
ENST00000683133.1:c.1659A>G	ENSP00000508108.1:n.1659A>G
ENST00000683243.1:c.*628A>G	ENSP00000507042.1:n.*628A>G
ENST00000683463.1:c.*964A>G	ENSP00000507986.1:n.*964A>G
ENST00000683548.1:n.1933A>G
ENST00000683579.1:c.*1373A>G	ENSP00000506867.1:n.*1373A>G
ENST00000683587.1:n.2006A>G
ENST00000683681.1:c.*153A>G	ENSP00000508110.1:n.*153A>G
ENST00000683735.1:c.*1873A>G	ENSP00000508336.1:n.*1873A>G
ENST00000683853.1:c.*280A>G	ENSP00000506834.1:n.*280A>G
ENST00000683860.1:c.*595A>G	ENSP00000507179.1:n.*595A>G
ENST00000683884.1:c.*802A>G	ENSP00000507004.1:n.*802A>G
ENST00000684041.1:c.*608A>G	ENSP00000508382.1:n.*608A>G
ENST00000684125.1:c.*135A>G	ENSP00000507320.1:n.*135A>G
ENST00000684203.1:n.3924A>G
ENST00000684231.1:c.*885A>G	ENSP00000507748.1:n.*885A>G
ENST00000684263.1:c.*1099A>G	ENSP00000508369.1:n.*1099A>G
ENST00000684305.1:c.1923A>G	ENSP00000506819.1:n.1923A>G
ENST00000684415.1:c.*1026A>G	ENSP00000507227.1:n.*1026A>G
ENST00000684520.1:c.*734A>G	ENSP00000506826.1:n.*734A>G
ENST00000684602.1:c.*1141A>G	ENSP00000507996.1:n.*1141A>G
ENST00000684667.1:c.1806A>G	ENSP00000507003.1:n.1806A>G
ENST00000268097.10:c.1475A>G MANE Select	ENSP00000268097.6:p.Asp492Gly
ENST00000268097.9:c.1475A>G	ENSP00000268097.5:p.Asp492Gly
ENST00000379915.4:c.557A>G	ENSP00000478716.1:p.Asp186Gly
ENST00000564677.5:n.267A>G
ENST00000565873.1:n.386A>G
ENST00000566304.5:c.1508A>G	ENSP00000455114.1:p.Asp503Gly
ENST00000567027.5:c.1090A>G
ENST00000567159.5:c.1475A>G	ENSP00000456489.1:p.Asp492Gly
ENST00000567411.5:c.*996A>G	ENSP00000455545.1:n.*996A>G
ENST00000568777.5:n.6695A>G
ENST00000569116.1:n.182A>G
NM_000520.4:c.1475A>G	NP_000511.2:p.Asp492Gly
NM_000520.5:c.1475A>G	NP_000511.2:p.Asp492Gly
NM_001318825.1:c.1508A>G	NP_001305754.1:p.Asp503Gly
NR_134869.1:n.1719A>G
NM_000520.6:c.1475A>G MANE Select	NP_000511.2:p.Asp492Gly
NM_001318825.2:c.1508A>G	NP_001305754.1:p.Asp503Gly
NR_134869.2:n.1260A>G
NR_134869.3:n.1260A>G