Canonical Allele Identifier: CA2629339463

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343452-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343452G>T , CM000677.2:g.72343452G>T	GRCh38
NC_000015.9:g.72635793G>T , CM000677.1:g.72635793G>T	GRCh37
NC_000015.8:g.70422847G>T	NCBI36
NG_009017.1:g.37728C>A
NG_009017.2:g.37728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683243.1:c.*1368C>A	ENSP00000507042.1:n.*1368C>A
ENST00000684263.1:c.*1839C>A	ENSP00000508369.1:n.*1839C>A
ENST00000268097.10:c.*625C>A MANE Select	ENSP00000268097.6:n.*625C>A
ENST00000268097.9:c.*625C>A	ENSP00000268097.5:n.*625C>A
ENST00000379915.4:c.608+1994C>A	ENSP00000478716.1:n.608+1994C>A
NM_000520.4:c.*625C>A	NP_000511.2:n.*625C>A
NM_000520.5:c.*625C>A	NP_000511.2:n.*625C>A
NM_001318825.1:c.*625C>A	NP_001305754.1:n.*625C>A
NM_000520.6:c.*625C>A MANE Select	NP_000511.2:n.*625C>A
NM_001318825.2:c.*625C>A	NP_001305754.1:n.*625C>A