Canonical Allele Identifier: CA2575781398

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376053C>A , CM000677.2:g.72376053C>A	GRCh38
NC_000015.9:g.72668394C>A , CM000677.1:g.72668394C>A	GRCh37
NC_000015.8:g.70455448C>A	NCBI36
NG_009017.1:g.5127G>T
NG_009017.2:g.5127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-81G>T	ENSP00000268097.5:n.-81G>T
ENST00000569509.5:n.147-222G>T
NM_000520.4:c.-81G>T	NP_000511.2:n.-81G>T
NM_000520.5:c.-81G>T	NP_000511.2:n.-81G>T
NM_001318825.1:c.-81G>T	NP_001305754.1:n.-81G>T
NR_134869.1:n.421G>T