Canonical Allele Identifier: CA491133080

Gene: HEXA HEXA-AS1

Linked Data

• gnomAD v4: 15-72376131-A-G
• MyVariant Identifiers: chr15:g.72668472A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376131A>G , CM000677.2:g.72376131A>G	GRCh38
NC_000015.9:g.72668472A>G , CM000677.1:g.72668472A>G	GRCh37
NC_000015.8:g.70455526A>G	NCBI36
NG_009017.1:g.5049T>C
NG_009017.2:g.5049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-159T>C (HEXA)	ENSP00000268097.5:n.-159T>C
ENST00000569509.5:n.146+144T>C (HEXA)
NM_000520.4:c.-159T>C (HEXA)	NP_000511.2:n.-159T>C
NR_027262.1:n.19A>G (HEXA-AS1)
NM_000520.5:c.-159T>C (HEXA)	NP_000511.2:n.-159T>C
NM_001318825.1:c.-159T>C (HEXA)	NP_001305754.1:n.-159T>C
NR_134869.1:n.343T>C (HEXA)