Canonical Allele Identifier: CA491133031

Gene: HEXA HEXA-AS1

Linked Data

• dbSNP Id: rs2089066555
• gnomAD v3: 15-72376118-A-G
• gnomAD v4: 15-72376118-A-G
• MyVariant Identifiers: chr15:g.72668459A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376118A>G , CM000677.2:g.72376118A>G	GRCh38
NC_000015.9:g.72668459A>G , CM000677.1:g.72668459A>G	GRCh37
NC_000015.8:g.70455513A>G	NCBI36
NG_009017.1:g.5062T>C
NG_009017.2:g.5062T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-146T>C (HEXA)	ENSP00000268097.5:n.-146T>C
ENST00000569509.5:n.146+157T>C (HEXA)
NM_000520.4:c.-146T>C (HEXA)	NP_000511.2:n.-146T>C
NR_027262.1:n.6A>G (HEXA-AS1)
NM_000520.5:c.-146T>C (HEXA)	NP_000511.2:n.-146T>C
NM_001318825.1:c.-146T>C (HEXA)	NP_001305754.1:n.-146T>C
NR_134869.1:n.356T>C (HEXA)