Canonical Allele Identifier: CA1714329461
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66991256G= , CM000669.2:g.66991256G= GRCh38
NC_000007.13:g.66456243G= , CM000669.1:g.66456243G= GRCh37
NC_000007.12:g.66093678G= NCBI36
NG_007277.1:g.9346C= , LRG_104:g.9346C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000414306.6:c.*236C= ENSP00000394586.1:n.*236C=
ENST00000697860.1:n.472C=
ENST00000697861.1:c.304C= ENSP00000513460.1:p.Arg102=
ENST00000697862.1:c.460-34C= ENSP00000513461.1:n.460-34C=
ENST00000697863.1:c.448C= ENSP00000513462.1:p.Arg150=
ENST00000697864.1:n.1649C=
ENST00000697865.1:c.448C= ENSP00000513463.1:p.Arg150=
ENST00000697866.1:c.187C= ENSP00000513464.1:p.Arg63=
ENST00000697867.1:c.345C=
ENST00000697868.1:c.*269C= ENSP00000513466.1:n.*269C=
ENST00000697897.1:c.505C= ENSP00000513469.1:p.Arg169=
ENST00000246868.7:c.505C= MANE Select ENSP00000246868.2:p.Arg169=
ENST00000246868.6:c.505C= ENSP00000246868.2:p.Arg169=
ENST00000414306.5:c.*236C= ENSP00000394586.1:n.*236C=
ENST00000463579.1:n.394C=
ENST00000490953.5:n.646C=
ENST00000617799.1:c.505C= ENSP00000483040.1:p.Arg169=
NM_016038.2:c.505C= , LRG_104t1:c.505C= NP_057122.2:p.Arg169=
NM_016038.3:c.505C= NP_057122.2:p.Arg169=
NM_016038.4:c.505C= MANE Select NP_057122.2:p.Arg169=