Canonical Allele Identifier: CA2629343918

Gene: HEXA

Linked Data

• gnomAD v4: 15-72376042-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376042T>A , CM000677.2:g.72376042T>A	GRCh38
NC_000015.9:g.72668383T>A , CM000677.1:g.72668383T>A	GRCh37
NC_000015.8:g.70455437T>A	NCBI36
NG_009017.1:g.5138A>T
NG_009017.2:g.5138A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-70A>T	ENSP00000268097.5:n.-70A>T
ENST00000569509.5:n.147-211A>T
NM_000520.4:c.-70A>T	NP_000511.2:n.-70A>T
NM_000520.5:c.-70A>T	NP_000511.2:n.-70A>T
NM_001318825.1:c.-70A>T	NP_001305754.1:n.-70A>T
NR_134869.1:n.432A>T