Canonical Allele Identifier: CA1714331402
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66993290G= , CM000669.2:g.66993290G= GRCh38
NC_000007.13:g.66458277G= , CM000669.1:g.66458277G= GRCh37
NC_000007.12:g.66095712G= NCBI36
NG_007277.1:g.7312C= , LRG_104:g.7312C=
NG_033069.1:g.1486G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000414306.6:c.*117C= ENSP00000394586.1:n.*117C=
ENST00000697860.1:n.353C=
ENST00000697861.1:c.258+922C= ENSP00000513460.1:n.258+922C=
ENST00000697862.1:c.386C= ENSP00000513461.1:p.Thr129=
ENST00000697863.1:c.329C= ENSP00000513462.1:p.Thr110=
ENST00000697864.1:n.1530C=
ENST00000697865.1:c.329C= ENSP00000513463.1:p.Thr110=
ENST00000697866.1:c.68C= ENSP00000513464.1:p.Thr23=
ENST00000697867.1:c.226C=
ENST00000697868.1:c.*150C= ENSP00000513466.1:n.*150C=
ENST00000697869.1:c.*121C= ENSP00000513467.1:n.*121C=
ENST00000697897.1:c.386C= ENSP00000513469.1:p.Thr129=
ENST00000246868.7:c.386C= MANE Select ENSP00000246868.2:p.Thr129=
ENST00000246868.6:c.386C= ENSP00000246868.2:p.Thr129=
ENST00000414306.5:c.*117C= ENSP00000394586.1:n.*117C=
ENST00000463579.1:n.275C=
ENST00000490953.5:n.527C=
ENST00000617799.1:c.386C= ENSP00000483040.1:p.Thr129=
NM_016038.2:c.386C= , LRG_104t1:c.386C= NP_057122.2:p.Thr129=
NM_016038.3:c.386C= NP_057122.2:p.Thr129=
NM_016038.4:c.386C= MANE Select NP_057122.2:p.Thr129=