Canonical Allele Identifier: CA2629339580

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343550-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343550G>T , CM000677.2:g.72343550G>T	GRCh38
NC_000015.9:g.72635891G>T , CM000677.1:g.72635891G>T	GRCh37
NC_000015.8:g.70422945G>T	NCBI36
NG_009017.1:g.37630C>A
NG_009017.2:g.37630C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2344C>A
ENST00000682235.1:n.2140C>A
ENST00000682461.1:c.2223C>A	ENSP00000507308.1:n.2223C>A
ENST00000682653.1:n.4426C>A
ENST00000682721.1:c.*1920C>A	ENSP00000507535.1:n.*1920C>A
ENST00000682843.1:c.*1758C>A	ENSP00000508173.1:n.*1758C>A
ENST00000683133.1:c.2301C>A	ENSP00000508108.1:n.2301C>A
ENST00000683243.1:c.*1270C>A	ENSP00000507042.1:n.*1270C>A
ENST00000683463.1:c.*1606C>A	ENSP00000507986.1:n.*1606C>A
ENST00000683548.1:n.2575C>A
ENST00000683579.1:c.*2015C>A	ENSP00000506867.1:n.*2015C>A
ENST00000683587.1:n.2648C>A
ENST00000683735.1:c.*2515C>A	ENSP00000508336.1:n.*2515C>A
ENST00000683853.1:c.*2227C>A	ENSP00000506834.1:n.*2227C>A
ENST00000684125.1:c.*777C>A	ENSP00000507320.1:n.*777C>A
ENST00000684203.1:n.4566C>A
ENST00000684231.1:c.*1527C>A	ENSP00000507748.1:n.*1527C>A
ENST00000684263.1:c.*1741C>A	ENSP00000508369.1:n.*1741C>A
ENST00000684305.1:c.2565C>A	ENSP00000506819.1:n.2565C>A
ENST00000684602.1:c.*1783C>A	ENSP00000507996.1:n.*1783C>A
ENST00000684667.1:c.2448C>A	ENSP00000507003.1:n.2448C>A
ENST00000268097.10:c.*527C>A MANE Select	ENSP00000268097.6:n.*527C>A
ENST00000268097.9:c.*527C>A	ENSP00000268097.5:n.*527C>A
ENST00000379915.4:c.608+1896C>A	ENSP00000478716.1:n.608+1896C>A
NM_000520.4:c.*527C>A	NP_000511.2:n.*527C>A
NM_000520.5:c.*527C>A	NP_000511.2:n.*527C>A
NM_001318825.1:c.*527C>A	NP_001305754.1:n.*527C>A
NM_000520.6:c.*527C>A MANE Select	NP_000511.2:n.*527C>A
NM_001318825.2:c.*527C>A	NP_001305754.1:n.*527C>A