Canonical Allele Identifier: CA618961243

Gene: HEXA

Linked Data

• dbSNP Id: rs1236477860
• gnomAD v2: 15-72668393-G-C
• gnomAD v3: 15-72376052-G-C
• gnomAD v4: 15-72376052-G-C
• MyVariant Identifiers: chr15:g.72668393G>C (hg19) ; chr15:g.72376052G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376052G>C , CM000677.2:g.72376052G>C	GRCh38
NC_000015.9:g.72668393G>C , CM000677.1:g.72668393G>C	GRCh37
NC_000015.8:g.70455447G>C	NCBI36
NG_009017.1:g.5128C>G
NG_009017.2:g.5128C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-80C>G	ENSP00000268097.5:n.-80C>G
ENST00000569509.5:n.147-221C>G
NM_000520.4:c.-80C>G	NP_000511.2:n.-80C>G
NM_000520.5:c.-80C>G	NP_000511.2:n.-80C>G
NM_001318825.1:c.-80C>G	NP_001305754.1:n.-80C>G
NR_134869.1:n.422C>G