Canonical Allele Identifier: CA351442
Gene: HEXA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 446383
ClinVar RCV Id: RCV000664577
dbSNP Id: rs1800429

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72351207C>T , CM000677.2:g.72351207C>T GRCh38
NC_000015.9:g.72643548C>T , CM000677.1:g.72643548C>T GRCh37
NC_000015.8:g.70430602C>T NCBI36
NG_009017.1:g.29973G>A
NG_009017.2:g.29973G>A

Transcript Alleles

HGVS Amino-acid change
NM_000520.4:c.598G>A VV NP_000511.2:p.Val200Met
NM_000520.5:c.598G>A VV NP_000511.2:p.Val200Met
NM_001318825.1:c.631G>A VV NP_001305754.1:p.Val211Met
NR_134869.1:n.1099G>A
ENST00000268097.9:c.598G>A ENSP00000268097.5:p.Val200Met
ENST00000379915.4:c.412+4352G>A ENSP00000478716.1:p.=
ENST00000563762.5:n.531G>A ENSP00000456346.1:p.=
ENST00000566304.5:c.631G>A ENSP00000455114.1:p.Val211Met
ENST00000566672.5:c.*8G>A ENSP00000457037.1:p.=
ENST00000567027.5:n.470G>A
ENST00000567159.5:c.598G>A ENSP00000456489.1:p.Val200Met
ENST00000567411.5:c.*119G>A ENSP00000455545.1:p.=
ENST00000568260.1:n.599G>A
ENST00000568777.5:n.6002G>A
ENST00000569410.5:c.598G>A ENSP00000457125.1:p.Val200Met
ENST00000569509.5:n.445G>A