Canonical Allele Identifier: CA491133015

Gene: HEXA HEXA-AS1

Linked Data

• gnomAD v4: 15-72376113-C-A
• MyVariant Identifiers: chr15:g.72668454C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376113C>A , CM000677.2:g.72376113C>A	GRCh38
NC_000015.9:g.72668454C>A , CM000677.1:g.72668454C>A	GRCh37
NC_000015.8:g.70455508C>A	NCBI36
NG_009017.1:g.5067G>T
NG_009017.2:g.5067G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-141G>T (HEXA)	ENSP00000268097.5:n.-141G>T
ENST00000569509.5:n.146+162G>T (HEXA)
NM_000520.4:c.-141G>T (HEXA)	NP_000511.2:n.-141G>T
NR_027262.1:n.1C>A (HEXA-AS1)
NM_000520.5:c.-141G>T (HEXA)	NP_000511.2:n.-141G>T
NM_001318825.1:c.-141G>T (HEXA)	NP_001305754.1:n.-141G>T
NR_134869.1:n.361G>T (HEXA)