Canonical Allele Identifier: CA971332827

Gene: HEXA

Linked Data

• dbSNP Id: rs1203831913
• gnomAD v3: 15-72376074-G-A
• gnomAD v4: 15-72376074-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376074G>A , CM000677.2:g.72376074G>A	GRCh38
NC_000015.9:g.72668415G>A , CM000677.1:g.72668415G>A	GRCh37
NC_000015.8:g.70455469G>A	NCBI36
NG_009017.1:g.5106C>T
NG_009017.2:g.5106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-102C>T	ENSP00000268097.5:n.-102C>T
ENST00000569509.5:n.146+201C>T
NM_000520.4:c.-102C>T	NP_000511.2:n.-102C>T
NM_000520.5:c.-102C>T	NP_000511.2:n.-102C>T
NM_001318825.1:c.-102C>T	NP_001305754.1:n.-102C>T
NR_134869.1:n.400C>T