Canonical Allele Identifier: CA2629339715

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343657-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343657G>T , CM000677.2:g.72343657G>T	GRCh38
NC_000015.9:g.72635998G>T , CM000677.1:g.72635998G>T	GRCh37
NC_000015.8:g.70423052G>T	NCBI36
NG_009017.1:g.37523C>A
NG_009017.2:g.37523C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2237C>A
ENST00000682235.1:n.2033C>A
ENST00000682461.1:c.2116C>A	ENSP00000507308.1:n.2116C>A
ENST00000682653.1:n.4319C>A
ENST00000682721.1:c.*1813C>A	ENSP00000507535.1:n.*1813C>A
ENST00000682843.1:c.*1651C>A	ENSP00000508173.1:n.*1651C>A
ENST00000683133.1:c.2194C>A	ENSP00000508108.1:n.2194C>A
ENST00000683243.1:c.*1163C>A	ENSP00000507042.1:n.*1163C>A
ENST00000683463.1:c.*1499C>A	ENSP00000507986.1:n.*1499C>A
ENST00000683548.1:n.2468C>A
ENST00000683579.1:c.*1908C>A	ENSP00000506867.1:n.*1908C>A
ENST00000683587.1:n.2541C>A
ENST00000683735.1:c.*2408C>A	ENSP00000508336.1:n.*2408C>A
ENST00000683853.1:c.*2120C>A	ENSP00000506834.1:n.*2120C>A
ENST00000684125.1:c.*670C>A	ENSP00000507320.1:n.*670C>A
ENST00000684203.1:n.4459C>A
ENST00000684231.1:c.*1420C>A	ENSP00000507748.1:n.*1420C>A
ENST00000684263.1:c.*1634C>A	ENSP00000508369.1:n.*1634C>A
ENST00000684305.1:c.2458C>A	ENSP00000506819.1:n.2458C>A
ENST00000684602.1:c.*1676C>A	ENSP00000507996.1:n.*1676C>A
ENST00000684667.1:c.2341C>A	ENSP00000507003.1:n.2341C>A
ENST00000268097.10:c.*420C>A MANE Select	ENSP00000268097.6:n.*420C>A
ENST00000268097.9:c.*420C>A	ENSP00000268097.5:n.*420C>A
ENST00000379915.4:c.608+1789C>A	ENSP00000478716.1:n.608+1789C>A
NM_000520.4:c.*420C>A	NP_000511.2:n.*420C>A
NM_000520.5:c.*420C>A	NP_000511.2:n.*420C>A
NM_001318825.1:c.*420C>A	NP_001305754.1:n.*420C>A
NM_000520.6:c.*420C>A MANE Select	NP_000511.2:n.*420C>A
NM_001318825.2:c.*420C>A	NP_001305754.1:n.*420C>A