Canonical Allele Identifier: CA7644928
Gene: HEXA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 256351
dbSNP Id: rs117160567

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72351103A>C , CM000677.2:g.72351103A>C GRCh38
NC_000015.9:g.72643444A>C , CM000677.1:g.72643444A>C GRCh37
NC_000015.8:g.70430498A>C NCBI36
NG_009017.1:g.30077T>G
NG_009017.2:g.30077T>G

Transcript Alleles

HGVS Amino-acid change
NM_000520.4:c.672+30T>G VV NP_000511.2:p.=
NM_000520.5:c.672+30T>G VV NP_000511.2:p.=
NM_001318825.1:c.705+30T>G VV NP_001305754.1:p.=
NR_134869.1:n.1173+30T>G
ENST00000268097.9:c.672+30T>G ENSP00000268097.5:p.=
ENST00000379915.4:c.412+4456T>G ENSP00000478716.1:p.=
ENST00000563762.5:n.605+30T>G ENSP00000456346.1:p.=
ENST00000566304.5:c.705+30T>G ENSP00000455114.1:p.=
ENST00000566672.5:c.*82+30T>G ENSP00000457037.1:p.=
ENST00000567027.5:n.544+30T>G
ENST00000567159.5:c.672+30T>G ENSP00000456489.1:p.=
ENST00000567411.5:c.*193+30T>G ENSP00000455545.1:p.=
ENST00000568777.5:n.6076+30T>G
ENST00000569410.5:c.672+30T>G ENSP00000457125.1:p.=
ENST00000569509.5:n.519+30T>G