Canonical Allele Identifier: CA2575781393

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376032G>C , CM000677.2:g.72376032G>C	GRCh38
NC_000015.9:g.72668373G>C , CM000677.1:g.72668373G>C	GRCh37
NC_000015.8:g.70455427G>C	NCBI36
NG_009017.1:g.5148C>G
NG_009017.2:g.5148C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-60C>G	ENSP00000268097.5:n.-60C>G
ENST00000569509.5:n.147-201C>G
NM_000520.4:c.-60C>G	NP_000511.2:n.-60C>G
NM_000520.5:c.-60C>G	NP_000511.2:n.-60C>G
NM_001318825.1:c.-60C>G	NP_001305754.1:n.-60C>G
NR_134869.1:n.442C>G