Canonical Allele Identifier: CA491133035

Gene: HEXA HEXA-AS1

Linked Data

• dbSNP Id: rs2089066591
• MyVariant Identifiers: chr15:g.72668460C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376119C>G , CM000677.2:g.72376119C>G	GRCh38
NC_000015.9:g.72668460C>G , CM000677.1:g.72668460C>G	GRCh37
NC_000015.8:g.70455514C>G	NCBI36
NG_009017.1:g.5061G>C
NG_009017.2:g.5061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-147G>C (HEXA)	ENSP00000268097.5:n.-147G>C
ENST00000569509.5:n.146+156G>C (HEXA)
NM_000520.4:c.-147G>C (HEXA)	NP_000511.2:n.-147G>C
NR_027262.1:n.7C>G (HEXA-AS1)
NM_000520.5:c.-147G>C (HEXA)	NP_000511.2:n.-147G>C
NM_001318825.1:c.-147G>C (HEXA)	NP_001305754.1:n.-147G>C
NR_134869.1:n.355G>C (HEXA)