Canonical Allele Identifier: CA491133041

Gene: HEXA HEXA-AS1

Linked Data

• MyVariant Identifiers: chr15:g.72668462T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376121T>C , CM000677.2:g.72376121T>C	GRCh38
NC_000015.9:g.72668462T>C , CM000677.1:g.72668462T>C	GRCh37
NC_000015.8:g.70455516T>C	NCBI36
NG_009017.1:g.5059A>G
NG_009017.2:g.5059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-149A>G (HEXA)	ENSP00000268097.5:n.-149A>G
ENST00000569509.5:n.146+154A>G (HEXA)
NM_000520.4:c.-149A>G (HEXA)	NP_000511.2:n.-149A>G
NR_027262.1:n.9T>C (HEXA-AS1)
NM_000520.5:c.-149A>G (HEXA)	NP_000511.2:n.-149A>G
NM_001318825.1:c.-149A>G (HEXA)	NP_001305754.1:n.-149A>G
NR_134869.1:n.353A>G (HEXA)