Canonical Allele Identifier: CA2629339464

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343453-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343453T>G , CM000677.2:g.72343453T>G	GRCh38
NC_000015.9:g.72635794T>G , CM000677.1:g.72635794T>G	GRCh37
NC_000015.8:g.70422848T>G	NCBI36
NG_009017.1:g.37727A>C
NG_009017.2:g.37727A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683243.1:c.*1367A>C	ENSP00000507042.1:n.*1367A>C
ENST00000683853.1:c.*2324A>C	ENSP00000506834.1:n.*2324A>C
ENST00000684263.1:c.*1838A>C	ENSP00000508369.1:n.*1838A>C
ENST00000268097.10:c.*624A>C MANE Select	ENSP00000268097.6:n.*624A>C
ENST00000268097.9:c.*624A>C	ENSP00000268097.5:n.*624A>C
ENST00000379915.4:c.608+1993A>C	ENSP00000478716.1:n.608+1993A>C
NM_000520.4:c.*624A>C	NP_000511.2:n.*624A>C
NM_000520.5:c.*624A>C	NP_000511.2:n.*624A>C
NM_001318825.1:c.*624A>C	NP_001305754.1:n.*624A>C
NM_000520.6:c.*624A>C MANE Select	NP_000511.2:n.*624A>C
NM_001318825.2:c.*624A>C	NP_001305754.1:n.*624A>C