Canonical Allele Identifier: CA491133055

Gene: HEXA HEXA-AS1

Linked Data

• MyVariant Identifiers: chr15:g.72668465G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376124G>C , CM000677.2:g.72376124G>C	GRCh38
NC_000015.9:g.72668465G>C , CM000677.1:g.72668465G>C	GRCh37
NC_000015.8:g.70455519G>C	NCBI36
NG_009017.1:g.5056C>G
NG_009017.2:g.5056C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-152C>G (HEXA)	ENSP00000268097.5:n.-152C>G
ENST00000569509.5:n.146+151C>G (HEXA)
NM_000520.4:c.-152C>G (HEXA)	NP_000511.2:n.-152C>G
NR_027262.1:n.12G>C (HEXA-AS1)
NM_000520.5:c.-152C>G (HEXA)	NP_000511.2:n.-152C>G
NM_001318825.1:c.-152C>G (HEXA)	NP_001305754.1:n.-152C>G
NR_134869.1:n.350C>G (HEXA)