Canonical Allele Identifier: CA16041736
Gene: HEXA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370974
ClinVar RCV Id: RCV000411061
dbSNP Id: rs1057516908

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72349260C>G , CM000677.2:g.72349260C>G GRCh38
NC_000015.9:g.72641601C>G , CM000677.1:g.72641601C>G GRCh37
NC_000015.8:g.70428655C>G NCBI36
NG_009017.1:g.31920G>C
NG_009017.2:g.31920G>C

Transcript Alleles

HGVS Amino-acid change
NM_000520.4:c.806-1G>C VV NP_000511.2:p.=
NM_000520.5:c.806-1G>C VV
NM_001318825.1:c.839-1G>C VV NP_001305754.1:p.=
NR_134869.1:n.1307-1G>C
ENST00000268097.9:c.806-1G>C ENSP00000268097.5:p.=
ENST00000379915.4:c.413-2935G>C ENSP00000478716.1:p.=
ENST00000563762.5:n.739-1126G>C ENSP00000456346.1:p.=
ENST00000566304.5:c.839-1G>C ENSP00000455114.1:p.=
ENST00000566672.5:c.*216-1G>C ENSP00000457037.1:p.=
ENST00000567027.5:n.678-1G>C
ENST00000567159.5:c.806-1G>C ENSP00000456489.1:p.=
ENST00000567411.5:c.*327-1G>C ENSP00000455545.1:p.=
ENST00000568777.5:n.6210-1G>C
ENST00000569410.5:c.806-1G>C ENSP00000457125.1:p.=