Canonical Allele Identifier: CA7644663

Gene: HEXA

Linked Data

• dbSNP Id: rs778293061
• ExAC: 15:72637796 T / C
• gnomAD v2: 15-72637796-T-C
• gnomAD v3: 15-72345455-T-C
• gnomAD v4: 15-72345455-T-C
• MyVariant Identifiers: chr15:g.72637796T>C (hg19) ; chr15:g.72345455T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345455T>C , CM000677.2:g.72345455T>C	GRCh38
NC_000015.9:g.72637796T>C , CM000677.1:g.72637796T>C	GRCh37
NC_000015.8:g.70424850T>C	NCBI36
NG_009017.1:g.35725A>G
NG_009017.2:g.35725A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*177A>G	ENSP00000457521.2:n.*177A>G
ENST00000682061.1:c.*1863A>G	ENSP00000508316.1:n.*1863A>G
ENST00000682064.1:n.1744A>G
ENST00000682177.1:c.1560A>G	ENSP00000507409.1:n.1560A>G
ENST00000682235.1:n.1540A>G
ENST00000682461.1:c.1623A>G	ENSP00000507308.1:n.1623A>G
ENST00000682653.1:n.2521A>G
ENST00000682657.1:c.*1354A>G	ENSP00000507753.1:n.*1354A>G
ENST00000682721.1:c.*1320A>G	ENSP00000507535.1:n.*1320A>G
ENST00000682843.1:c.*1158A>G	ENSP00000508173.1:n.*1158A>G
ENST00000683003.1:c.*1354A>G	ENSP00000507576.1:n.*1354A>G
ENST00000683133.1:c.1701A>G	ENSP00000508108.1:n.1701A>G
ENST00000683243.1:c.*670A>G	ENSP00000507042.1:n.*670A>G
ENST00000683463.1:c.*1006A>G	ENSP00000507986.1:n.*1006A>G
ENST00000683548.1:n.1975A>G
ENST00000683579.1:c.*1415A>G	ENSP00000506867.1:n.*1415A>G
ENST00000683587.1:n.2048A>G
ENST00000683681.1:c.*195A>G	ENSP00000508110.1:n.*195A>G
ENST00000683735.1:c.*1915A>G	ENSP00000508336.1:n.*1915A>G
ENST00000683853.1:c.*322A>G	ENSP00000506834.1:n.*322A>G
ENST00000683860.1:c.*637A>G	ENSP00000507179.1:n.*637A>G
ENST00000683884.1:c.*844A>G	ENSP00000507004.1:n.*844A>G
ENST00000684125.1:c.*177A>G	ENSP00000507320.1:n.*177A>G
ENST00000684203.1:n.3966A>G
ENST00000684231.1:c.*927A>G	ENSP00000507748.1:n.*927A>G
ENST00000684263.1:c.*1141A>G	ENSP00000508369.1:n.*1141A>G
ENST00000684305.1:c.1965A>G	ENSP00000506819.1:n.1965A>G
ENST00000684415.1:c.*1068A>G	ENSP00000507227.1:n.*1068A>G
ENST00000684520.1:c.*776A>G	ENSP00000506826.1:n.*776A>G
ENST00000684602.1:c.*1183A>G	ENSP00000507996.1:n.*1183A>G
ENST00000684667.1:c.1848A>G	ENSP00000507003.1:n.1848A>G
ENST00000268097.10:c.1517A>G MANE Select	ENSP00000268097.6:p.Glu506Gly
ENST00000268097.9:c.1517A>G	ENSP00000268097.5:p.Glu506Gly
ENST00000379915.4:c.599A>G	ENSP00000478716.1:p.Glu200Gly
ENST00000564677.5:n.309A>G
ENST00000565873.1:n.428A>G
ENST00000566304.5:c.1550A>G	ENSP00000455114.1:p.Glu517Gly
ENST00000567027.5:c.1132A>G
ENST00000567159.5:c.1517A>G	ENSP00000456489.1:p.Glu506Gly
ENST00000567411.5:c.*1038A>G	ENSP00000455545.1:n.*1038A>G
ENST00000568777.5:n.6737A>G
ENST00000569116.1:n.224A>G
NM_000520.4:c.1517A>G	NP_000511.2:p.Glu506Gly
NM_000520.5:c.1517A>G	NP_000511.2:p.Glu506Gly
NM_001318825.1:c.1550A>G	NP_001305754.1:p.Glu517Gly
NR_134869.1:n.1761A>G
NM_000520.6:c.1517A>G MANE Select	NP_000511.2:p.Glu506Gly
NM_001318825.2:c.1550A>G	NP_001305754.1:p.Glu517Gly
NR_134869.2:n.1302A>G
NR_134869.3:n.1302A>G