Canonical Allele Identifier: CA272631541

Gene: HEXA

Linked Data

• dbSNP Id: rs530323079
• gnomAD v2: 15-72668381-C-A
• gnomAD v3: 15-72376040-C-A
• gnomAD v4: 15-72376040-C-A
• MyVariant Identifiers: chr15:g.72668381C>A (hg19) ; chr15:g.72376040C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376040C>A , CM000677.2:g.72376040C>A	GRCh38
NC_000015.9:g.72668381C>A , CM000677.1:g.72668381C>A	GRCh37
NC_000015.8:g.70455435C>A	NCBI36
NG_009017.1:g.5140G>T
NG_009017.2:g.5140G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-68G>T	ENSP00000268097.5:n.-68G>T
ENST00000569509.5:n.147-209G>T
NM_000520.4:c.-68G>T	NP_000511.2:n.-68G>T
NM_000520.5:c.-68G>T	NP_000511.2:n.-68G>T
NM_001318825.1:c.-68G>T	NP_001305754.1:n.-68G>T
NR_134869.1:n.434G>T