Canonical Allele Identifier: CA1714331544
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66993382T= , CM000669.2:g.66993382T= GRCh38
NC_000007.13:g.66458369T= , CM000669.1:g.66458369T= GRCh37
NC_000007.12:g.66095804T= NCBI36
NG_007277.1:g.7220A= , LRG_104:g.7220A=
NG_033069.1:g.1578T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000414306.6:c.*25A= ENSP00000394586.1:n.*25A=
ENST00000697860.1:n.261A=
ENST00000697861.1:c.258+830A= ENSP00000513460.1:n.258+830A=
ENST00000697862.1:c.294A= ENSP00000513461.1:p.Lys98=
ENST00000697863.1:c.237A= ENSP00000513462.1:p.Lys79=
ENST00000697864.1:n.1438A=
ENST00000697865.1:c.237A= ENSP00000513463.1:p.Lys79=
ENST00000697866.1:c.-25A= ENSP00000513464.1:n.-25A=
ENST00000697867.1:c.134A=
ENST00000697868.1:c.*58A= ENSP00000513466.1:n.*58A=
ENST00000697869.1:c.*29A= ENSP00000513467.1:n.*29A=
ENST00000697897.1:c.294A= ENSP00000513469.1:p.Lys98=
ENST00000246868.7:c.294A= MANE Select ENSP00000246868.2:p.Lys98=
ENST00000246868.6:c.294A= ENSP00000246868.2:p.Lys98=
ENST00000414306.5:c.*25A= ENSP00000394586.1:n.*25A=
ENST00000463579.1:n.183A=
ENST00000490953.5:n.435A=
ENST00000617799.1:c.294A= ENSP00000483040.1:p.Lys98=
NM_016038.2:c.294A= , LRG_104t1:c.294A= NP_057122.2:p.Lys98=
NM_016038.3:c.294A= NP_057122.2:p.Lys98=
NM_016038.4:c.294A= MANE Select NP_057122.2:p.Lys98=