Canonical Allele Identifier: CA252929
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3930
ClinVar RCV Id: RCV000004136
dbSNP Id: rs121907975

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72355591A>C , CM000677.2:g.72355591A>C GRCh38
NC_000015.9:g.72647932A>C , CM000677.1:g.72647932A>C GRCh37
NC_000015.8:g.70434986A>C NCBI36
NG_009017.1:g.25589T>G
NG_009017.2:g.25589T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.380T>G MANE Select ENSP00000268097.6:p.Leu127Arg
ENST00000268097.9:c.380T>G ENSP00000268097.5:p.Leu127Arg
ENST00000379915.4:c.380T>G ENSP00000478716.1:p.Leu127Arg
ENST00000563762.5:n.471T>G ENSP00000456346.1:p.=
ENST00000563908.1:n.377T>G
ENST00000566304.5:c.413T>G ENSP00000455114.1:p.Leu138Arg
ENST00000566672.5:c.380T>G ENSP00000457037.1:p.Leu127Arg
ENST00000567027.5:n.252T>G
ENST00000567159.5:c.380T>G ENSP00000456489.1:p.Leu127Arg
ENST00000567411.5:c.380T>G ENSP00000455545.1:p.Leu127Arg
ENST00000568260.1:n.428T>G
ENST00000568777.5:n.3963T>G
ENST00000569410.5:c.380T>G ENSP00000457125.1:p.Leu127Arg
ENST00000569509.5:n.385T>G
NM_000520.4:c.380T>G NP_000511.2:p.Leu127Arg
NM_000520.5:c.380T>G NP_000511.2:p.Leu127Arg
NM_001318825.1:c.413T>G NP_001305754.1:p.Leu138Arg
NR_134869.1:n.881T>G
NM_000520.6:c.380T>G MANE Select NP_000511.2:p.Leu127Arg
NM_001318825.2:c.413T>G NP_001305754.1:p.Leu138Arg
NR_134869.2:n.422T>G
NR_134869.3:n.422T>G