Canonical Allele Identifier: CA1714331295
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66993207A= , CM000669.2:g.66993207A= GRCh38
NC_000007.13:g.66458194A= , CM000669.1:g.66458194A= GRCh37
NC_000007.12:g.66095629A= NCBI36
NG_007277.1:g.7395T= , LRG_104:g.7395T=
NG_033069.1:g.1403A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000414306.6:c.*190+10T= ENSP00000394586.1:n.*190+10T=
ENST00000697860.1:n.426+10T=
ENST00000697861.1:c.258+1005T= ENSP00000513460.1:n.258+1005T=
ENST00000697862.1:c.459+10T= ENSP00000513461.1:n.459+10T=
ENST00000697863.1:c.402+10T= ENSP00000513462.1:n.402+10T=
ENST00000697864.1:n.1603+10T=
ENST00000697865.1:c.402+10T= ENSP00000513463.1:n.402+10T=
ENST00000697866.1:c.141+10T= ENSP00000513464.1:n.141+10T=
ENST00000697867.1:c.299+10T=
ENST00000697868.1:c.*223+10T= ENSP00000513466.1:n.*223+10T=
ENST00000697869.1:c.*194+10T= ENSP00000513467.1:n.*194+10T=
ENST00000697897.1:c.459+10T= ENSP00000513469.1:n.459+10T=
ENST00000246868.7:c.459+10T= MANE Select ENSP00000246868.2:n.459+10T=
ENST00000246868.6:c.459+10T= ENSP00000246868.2:n.459+10T=
ENST00000414306.5:c.*190+10T= ENSP00000394586.1:n.*190+10T=
ENST00000463579.1:n.348+10T=
ENST00000490953.5:n.600+10T=
ENST00000617799.1:c.459+10T= ENSP00000483040.1:n.459+10T=
NM_016038.2:c.459+10T= , LRG_104t1:c.459+10T= NP_057122.2:n.459+10T=
NM_016038.3:c.459+10T= NP_057122.2:n.459+10T=
NM_016038.4:c.459+10T= MANE Select NP_057122.2:n.459+10T=