Canonical Allele Identifier: CA491111403

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637831T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345490T>G , CM000677.2:g.72345490T>G	GRCh38
NC_000015.9:g.72637831T>G , CM000677.1:g.72637831T>G	GRCh37
NC_000015.8:g.70424885T>G	NCBI36
NG_009017.1:g.35690A>C
NG_009017.2:g.35690A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*142A>C	ENSP00000457521.2:n.*142A>C
ENST00000682061.1:c.*1828A>C	ENSP00000508316.1:n.*1828A>C
ENST00000682064.1:n.1709A>C
ENST00000682177.1:c.1525A>C	ENSP00000507409.1:n.1525A>C
ENST00000682235.1:n.1505A>C
ENST00000682461.1:c.1588A>C	ENSP00000507308.1:n.1588A>C
ENST00000682653.1:n.2486A>C
ENST00000682657.1:c.*1319A>C	ENSP00000507753.1:n.*1319A>C
ENST00000682721.1:c.*1285A>C	ENSP00000507535.1:n.*1285A>C
ENST00000682843.1:c.*1123A>C	ENSP00000508173.1:n.*1123A>C
ENST00000683003.1:c.*1319A>C	ENSP00000507576.1:n.*1319A>C
ENST00000683133.1:c.1666A>C	ENSP00000508108.1:n.1666A>C
ENST00000683243.1:c.*635A>C	ENSP00000507042.1:n.*635A>C
ENST00000683463.1:c.*971A>C	ENSP00000507986.1:n.*971A>C
ENST00000683548.1:n.1940A>C
ENST00000683579.1:c.*1380A>C	ENSP00000506867.1:n.*1380A>C
ENST00000683587.1:n.2013A>C
ENST00000683681.1:c.*160A>C	ENSP00000508110.1:n.*160A>C
ENST00000683735.1:c.*1880A>C	ENSP00000508336.1:n.*1880A>C
ENST00000683853.1:c.*287A>C	ENSP00000506834.1:n.*287A>C
ENST00000683860.1:c.*602A>C	ENSP00000507179.1:n.*602A>C
ENST00000683884.1:c.*809A>C	ENSP00000507004.1:n.*809A>C
ENST00000684041.1:c.*615A>C	ENSP00000508382.1:n.*615A>C
ENST00000684125.1:c.*142A>C	ENSP00000507320.1:n.*142A>C
ENST00000684203.1:n.3931A>C
ENST00000684231.1:c.*892A>C	ENSP00000507748.1:n.*892A>C
ENST00000684263.1:c.*1106A>C	ENSP00000508369.1:n.*1106A>C
ENST00000684305.1:c.1930A>C	ENSP00000506819.1:n.1930A>C
ENST00000684415.1:c.*1033A>C	ENSP00000507227.1:n.*1033A>C
ENST00000684520.1:c.*741A>C	ENSP00000506826.1:n.*741A>C
ENST00000684602.1:c.*1148A>C	ENSP00000507996.1:n.*1148A>C
ENST00000684667.1:c.1813A>C	ENSP00000507003.1:n.1813A>C
ENST00000268097.10:c.1482A>C MANE Select	ENSP00000268097.6:p.Thr494=
ENST00000268097.9:c.1482A>C	ENSP00000268097.5:p.Thr494=
ENST00000379915.4:c.564A>C	ENSP00000478716.1:p.Thr188=
ENST00000564677.5:n.274A>C
ENST00000565873.1:n.393A>C
ENST00000566304.5:c.1515A>C	ENSP00000455114.1:p.Thr505=
ENST00000567027.5:c.1097A>C
ENST00000567159.5:c.1482A>C	ENSP00000456489.1:p.Thr494=
ENST00000567411.5:c.*1003A>C	ENSP00000455545.1:n.*1003A>C
ENST00000568777.5:n.6702A>C
ENST00000569116.1:n.189A>C
NM_000520.4:c.1482A>C	NP_000511.2:p.Thr494=
NM_000520.5:c.1482A>C	NP_000511.2:p.Thr494=
NM_001318825.1:c.1515A>C	NP_001305754.1:p.Thr505=
NR_134869.1:n.1726A>C
NM_000520.6:c.1482A>C MANE Select	NP_000511.2:p.Thr494=
NM_001318825.2:c.1515A>C	NP_001305754.1:p.Thr505=
NR_134869.2:n.1267A>C
NR_134869.3:n.1267A>C