Canonical Allele Identifier: CA272609052

Gene: HEXA

Linked Data

• dbSNP Id: rs4777502
• MyVariant Identifiers: chr15:g.72637795T>A (hg19) ; chr15:g.72345454T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345454T>A , CM000677.2:g.72345454T>A	GRCh38
NC_000015.9:g.72637795T>A , CM000677.1:g.72637795T>A	GRCh37
NC_000015.8:g.70424849T>A	NCBI36
NG_009017.1:g.35726A>T
NG_009017.2:g.35726A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*178A>T	ENSP00000457521.2:n.*178A>T
ENST00000682061.1:c.*1864A>T	ENSP00000508316.1:n.*1864A>T
ENST00000682064.1:n.1745A>T
ENST00000682177.1:c.1561A>T	ENSP00000507409.1:n.1561A>T
ENST00000682235.1:n.1541A>T
ENST00000682461.1:c.1624A>T	ENSP00000507308.1:n.1624A>T
ENST00000682653.1:n.2522A>T
ENST00000682657.1:c.*1355A>T	ENSP00000507753.1:n.*1355A>T
ENST00000682721.1:c.*1321A>T	ENSP00000507535.1:n.*1321A>T
ENST00000682843.1:c.*1159A>T	ENSP00000508173.1:n.*1159A>T
ENST00000683003.1:c.*1355A>T	ENSP00000507576.1:n.*1355A>T
ENST00000683133.1:c.1702A>T	ENSP00000508108.1:n.1702A>T
ENST00000683243.1:c.*671A>T	ENSP00000507042.1:n.*671A>T
ENST00000683463.1:c.*1007A>T	ENSP00000507986.1:n.*1007A>T
ENST00000683548.1:n.1976A>T
ENST00000683579.1:c.*1416A>T	ENSP00000506867.1:n.*1416A>T
ENST00000683587.1:n.2049A>T
ENST00000683681.1:c.*196A>T	ENSP00000508110.1:n.*196A>T
ENST00000683735.1:c.*1916A>T	ENSP00000508336.1:n.*1916A>T
ENST00000683853.1:c.*323A>T	ENSP00000506834.1:n.*323A>T
ENST00000683860.1:c.*638A>T	ENSP00000507179.1:n.*638A>T
ENST00000683884.1:c.*845A>T	ENSP00000507004.1:n.*845A>T
ENST00000684125.1:c.*178A>T	ENSP00000507320.1:n.*178A>T
ENST00000684203.1:n.3967A>T
ENST00000684231.1:c.*928A>T	ENSP00000507748.1:n.*928A>T
ENST00000684263.1:c.*1142A>T	ENSP00000508369.1:n.*1142A>T
ENST00000684305.1:c.1966A>T	ENSP00000506819.1:n.1966A>T
ENST00000684415.1:c.*1069A>T	ENSP00000507227.1:n.*1069A>T
ENST00000684520.1:c.*777A>T	ENSP00000506826.1:n.*777A>T
ENST00000684602.1:c.*1184A>T	ENSP00000507996.1:n.*1184A>T
ENST00000684667.1:c.1849A>T	ENSP00000507003.1:n.1849A>T
ENST00000268097.10:c.1518A>T MANE Select	ENSP00000268097.6:p.Glu506Asp
ENST00000268097.9:c.1518A>T	ENSP00000268097.5:p.Glu506Asp
ENST00000379915.4:c.600A>T	ENSP00000478716.1:p.Glu200Asp
ENST00000564677.5:n.310A>T
ENST00000565873.1:n.429A>T
ENST00000566304.5:c.1551A>T	ENSP00000455114.1:p.Glu517Asp
ENST00000567027.5:c.1133A>T
ENST00000567159.5:c.1518A>T	ENSP00000456489.1:p.Glu506Asp
ENST00000567411.5:c.*1039A>T	ENSP00000455545.1:n.*1039A>T
ENST00000568777.5:n.6738A>T
ENST00000569116.1:n.225A>T
NM_000520.4:c.1518A>T	NP_000511.2:p.Glu506Asp
NM_000520.5:c.1518A>T	NP_000511.2:p.Glu506Asp
NM_001318825.1:c.1551A>T	NP_001305754.1:p.Glu517Asp
NR_134869.1:n.1762A>T
NM_000520.6:c.1518A>T MANE Select	NP_000511.2:p.Glu506Asp
NM_001318825.2:c.1551A>T	NP_001305754.1:p.Glu517Asp
NR_134869.2:n.1303A>T
NR_134869.3:n.1303A>T