Canonical Allele Identifier: CA393058422

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637788T>A (hg19) ; chr15:g.72345447T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345447T>A , CM000677.2:g.72345447T>A	GRCh38
NC_000015.9:g.72637788T>A , CM000677.1:g.72637788T>A	GRCh37
NC_000015.8:g.70424842T>A	NCBI36
NG_009017.1:g.35733A>T
NG_009017.2:g.35733A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*185A>T	ENSP00000457521.2:n.*185A>T
ENST00000682061.1:c.*1871A>T	ENSP00000508316.1:n.*1871A>T
ENST00000682064.1:n.1752A>T
ENST00000682177.1:c.1568A>T	ENSP00000507409.1:n.1568A>T
ENST00000682235.1:n.1548A>T
ENST00000682461.1:c.1631A>T	ENSP00000507308.1:n.1631A>T
ENST00000682653.1:n.2529A>T
ENST00000682657.1:c.*1362A>T	ENSP00000507753.1:n.*1362A>T
ENST00000682721.1:c.*1328A>T	ENSP00000507535.1:n.*1328A>T
ENST00000682843.1:c.*1166A>T	ENSP00000508173.1:n.*1166A>T
ENST00000683003.1:c.*1362A>T	ENSP00000507576.1:n.*1362A>T
ENST00000683133.1:c.1709A>T	ENSP00000508108.1:n.1709A>T
ENST00000683243.1:c.*678A>T	ENSP00000507042.1:n.*678A>T
ENST00000683463.1:c.*1014A>T	ENSP00000507986.1:n.*1014A>T
ENST00000683548.1:n.1983A>T
ENST00000683579.1:c.*1423A>T	ENSP00000506867.1:n.*1423A>T
ENST00000683587.1:n.2056A>T
ENST00000683681.1:c.*203A>T	ENSP00000508110.1:n.*203A>T
ENST00000683735.1:c.*1923A>T	ENSP00000508336.1:n.*1923A>T
ENST00000683853.1:c.*330A>T	ENSP00000506834.1:n.*330A>T
ENST00000683860.1:c.*645A>T	ENSP00000507179.1:n.*645A>T
ENST00000683884.1:c.*852A>T	ENSP00000507004.1:n.*852A>T
ENST00000684125.1:c.*185A>T	ENSP00000507320.1:n.*185A>T
ENST00000684203.1:n.3974A>T
ENST00000684231.1:c.*935A>T	ENSP00000507748.1:n.*935A>T
ENST00000684263.1:c.*1149A>T	ENSP00000508369.1:n.*1149A>T
ENST00000684305.1:c.1973A>T	ENSP00000506819.1:n.1973A>T
ENST00000684415.1:c.*1076A>T	ENSP00000507227.1:n.*1076A>T
ENST00000684520.1:c.*784A>T	ENSP00000506826.1:n.*784A>T
ENST00000684602.1:c.*1191A>T	ENSP00000507996.1:n.*1191A>T
ENST00000684667.1:c.1856A>T	ENSP00000507003.1:n.1856A>T
ENST00000268097.10:c.1525A>T MANE Select	ENSP00000268097.6:p.Arg509Trp
ENST00000268097.9:c.1525A>T	ENSP00000268097.5:p.Arg509Trp
ENST00000379915.4:c.607A>T	ENSP00000478716.1:p.Arg203Trp
ENST00000564677.5:n.317A>T
ENST00000565873.1:n.436A>T
ENST00000566304.5:c.1558A>T	ENSP00000455114.1:p.Arg520Trp
ENST00000567027.5:c.1140A>T
ENST00000567159.5:c.1525A>T	ENSP00000456489.1:p.Arg509Trp
ENST00000567411.5:c.*1046A>T	ENSP00000455545.1:n.*1046A>T
ENST00000568777.5:n.6745A>T
ENST00000569116.1:n.232A>T
NM_000520.4:c.1525A>T	NP_000511.2:p.Arg509Trp
NM_000520.5:c.1525A>T	NP_000511.2:p.Arg509Trp
NM_001318825.1:c.1558A>T	NP_001305754.1:p.Arg520Trp
NR_134869.1:n.1769A>T
NM_000520.6:c.1525A>T MANE Select	NP_000511.2:p.Arg509Trp
NM_001318825.2:c.1558A>T	NP_001305754.1:p.Arg520Trp
NR_134869.2:n.1310A>T
NR_134869.3:n.1310A>T