Canonical Allele Identifier: CA2186743703
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346620G= , CM000677.2:g.72346620G= GRCh38
NC_000015.9:g.72638961G= , CM000677.1:g.72638961G= GRCh37
NC_000015.8:g.70426015G= NCBI36
NG_009017.1:g.34560C=
NG_009017.2:g.34560C=

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.1237C= MANE Select ENSP00000268097.6:p.Arg413=
ENST00000268097.9:c.1237C= ENSP00000268097.5:p.Arg413=
ENST00000379915.4:c.413-295C= ENSP00000478716.1:p.=
ENST00000563762.5:n.826-295C= ENSP00000456346.1:p.=
ENST00000566304.5:c.1270C= ENSP00000455114.1:p.Arg424=
ENST00000566672.5:c.*647C= ENSP00000457037.1:p.=
ENST00000567027.5:n.946-295C=
ENST00000567159.5:c.1237C= ENSP00000456489.1:p.Arg413=
ENST00000567411.5:c.*758C= ENSP00000455545.1:p.=
ENST00000568777.5:n.6551-295C=
ENST00000569410.5:c.*42C= ENSP00000457125.1:p.=
NM_000520.4:c.1237C= NP_000511.2:p.Arg413=
NM_000520.5:c.1237C= NP_000511.2:p.Arg413=
NM_001318825.1:c.1270C= NP_001305754.1:p.Arg424=
NR_134869.1:n.1575-295C=
NM_000520.6:c.1237C= MANE Select NP_000511.2:p.Arg413=
NM_001318825.2:c.1270C= NP_001305754.1:p.Arg424=
NR_134869.2:n.1116-295C=
NR_134869.3:n.1116-295C=