Canonical Allele Identifier: CA116505
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3916
ClinVar RCV Id: RCV000004122
dbSNP Id: rs121907967

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72348134C>T , CM000677.2:g.72348134C>T GRCh38
NC_000015.9:g.72640475C>T , CM000677.1:g.72640475C>T GRCh37
NC_000015.8:g.70427529C>T NCBI36
NG_009017.1:g.33046G>A
NG_009017.2:g.33046G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.987G>A MANE Select ENSP00000268097.6:p.Trp329Ter
ENST00000268097.9:c.987G>A ENSP00000268097.5:p.Trp329Ter
ENST00000379915.4:c.413-1809G>A ENSP00000478716.1:p.=
ENST00000563762.5:n.739G>A ENSP00000456346.1:p.=
ENST00000566304.5:c.1020G>A ENSP00000455114.1:p.Trp340Ter
ENST00000566672.5:c.*397G>A ENSP00000457037.1:p.=
ENST00000567027.5:n.859G>A
ENST00000567159.5:c.987G>A ENSP00000456489.1:p.Trp329Ter
ENST00000567411.5:c.*508G>A ENSP00000455545.1:p.=
ENST00000568777.5:n.6391G>A
ENST00000569410.5:c.987G>A ENSP00000457125.1:p.Trp329Ter
NM_000520.4:c.987G>A NP_000511.2:p.Trp329Ter
NM_000520.5:c.987G>A NP_000511.2:p.Trp329Ter
NM_001318825.1:c.1020G>A NP_001305754.1:p.Trp340Ter
NR_134869.1:n.1488G>A
NM_000520.6:c.987G>A MANE Select NP_000511.2:p.Trp329Ter
NM_001318825.2:c.1020G>A NP_001305754.1:p.Trp340Ter
NR_134869.2:n.1029G>A
NR_134869.3:n.1029G>A