Canonical Allele Identifier: CA491111760

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637888G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345547G>T , CM000677.2:g.72345547G>T	GRCh38
NC_000015.9:g.72637888G>T , CM000677.1:g.72637888G>T	GRCh37
NC_000015.8:g.70424942G>T	NCBI36
NG_009017.1:g.35633C>A
NG_009017.2:g.35633C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*85C>A	ENSP00000457521.2:n.*85C>A
ENST00000682061.1:c.*1771C>A	ENSP00000508316.1:n.*1771C>A
ENST00000682064.1:n.1652C>A
ENST00000682177.1:c.1468C>A	ENSP00000507409.1:n.1468C>A
ENST00000682235.1:n.1448C>A
ENST00000682461.1:c.1531C>A	ENSP00000507308.1:n.1531C>A
ENST00000682653.1:n.2429C>A
ENST00000682657.1:c.*1262C>A	ENSP00000507753.1:n.*1262C>A
ENST00000682721.1:c.*1228C>A	ENSP00000507535.1:n.*1228C>A
ENST00000682843.1:c.*1066C>A	ENSP00000508173.1:n.*1066C>A
ENST00000683003.1:c.*1262C>A	ENSP00000507576.1:n.*1262C>A
ENST00000683133.1:c.1609C>A	ENSP00000508108.1:n.1609C>A
ENST00000683243.1:c.*578C>A	ENSP00000507042.1:n.*578C>A
ENST00000683463.1:c.*914C>A	ENSP00000507986.1:n.*914C>A
ENST00000683548.1:n.1883C>A
ENST00000683579.1:c.*1323C>A	ENSP00000506867.1:n.*1323C>A
ENST00000683587.1:n.1956C>A
ENST00000683681.1:c.*103C>A	ENSP00000508110.1:n.*103C>A
ENST00000683735.1:c.*1823C>A	ENSP00000508336.1:n.*1823C>A
ENST00000683853.1:c.*230C>A	ENSP00000506834.1:n.*230C>A
ENST00000683860.1:c.*545C>A	ENSP00000507179.1:n.*545C>A
ENST00000683884.1:c.*752C>A	ENSP00000507004.1:n.*752C>A
ENST00000684041.1:c.*558C>A	ENSP00000508382.1:n.*558C>A
ENST00000684125.1:c.*85C>A	ENSP00000507320.1:n.*85C>A
ENST00000684203.1:n.3874C>A
ENST00000684231.1:c.*835C>A	ENSP00000507748.1:n.*835C>A
ENST00000684263.1:c.*1049C>A	ENSP00000508369.1:n.*1049C>A
ENST00000684305.1:c.1873C>A	ENSP00000506819.1:n.1873C>A
ENST00000684415.1:c.*976C>A	ENSP00000507227.1:n.*976C>A
ENST00000684520.1:c.*684C>A	ENSP00000506826.1:n.*684C>A
ENST00000684602.1:c.*1091C>A	ENSP00000507996.1:n.*1091C>A
ENST00000684667.1:c.1756C>A	ENSP00000507003.1:n.1756C>A
ENST00000268097.10:c.1425C>A MANE Select	ENSP00000268097.6:p.Pro475=
ENST00000268097.9:c.1425C>A	ENSP00000268097.5:p.Pro475=
ENST00000379915.4:c.507C>A	ENSP00000478716.1:p.Pro169=
ENST00000564677.5:n.217C>A
ENST00000565873.1:n.336C>A
ENST00000566304.5:c.1458C>A	ENSP00000455114.1:p.Pro486=
ENST00000567027.5:c.1040C>A
ENST00000567159.5:c.1425C>A	ENSP00000456489.1:p.Pro475=
ENST00000567411.5:c.*946C>A	ENSP00000455545.1:n.*946C>A
ENST00000568777.5:n.6645C>A
ENST00000569116.1:n.132C>A
NM_000520.4:c.1425C>A	NP_000511.2:p.Pro475=
NM_000520.5:c.1425C>A	NP_000511.2:p.Pro475=
NM_001318825.1:c.1458C>A	NP_001305754.1:p.Pro486=
NR_134869.1:n.1669C>A
NM_000520.6:c.1425C>A MANE Select	NP_000511.2:p.Pro475=
NM_001318825.2:c.1458C>A	NP_001305754.1:p.Pro486=
NR_134869.2:n.1210C>A
NR_134869.3:n.1210C>A