Canonical Allele Identifier: CA1714369714
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66988516A= , CM000669.2:g.66988516A= GRCh38
NC_000007.13:g.66453503A= , CM000669.1:g.66453503A= GRCh37
NC_000007.12:g.66090938A= NCBI36
NG_007277.1:g.12086T= , LRG_104:g.12086T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000414306.6:c.*356-17T= ENSP00000394586.1:n.*356-17T=
ENST00000697860.1:n.592-17T=
ENST00000697861.1:c.424-17T= ENSP00000513460.1:n.424-17T=
ENST00000697862.1:c.*66-17T= ENSP00000513461.1:n.*66-17T=
ENST00000697863.1:c.568-17T= ENSP00000513462.1:n.568-17T=
ENST00000697864.1:n.1769-17T=
ENST00000697865.1:c.568-17T= ENSP00000513463.1:n.568-17T=
ENST00000697866.1:c.307-17T= ENSP00000513464.1:n.307-17T=
ENST00000697867.1:c.603-17T=
ENST00000697868.1:c.*389-17T= ENSP00000513466.1:n.*389-17T=
ENST00000697897.1:c.625-17T= ENSP00000513469.1:n.625-17T=
ENST00000246868.7:c.625-17T= MANE Select ENSP00000246868.2:n.625-17T=
ENST00000246868.6:c.625-17T= ENSP00000246868.2:n.625-17T=
ENST00000414306.5:c.*356-17T= ENSP00000394586.1:n.*356-17T=
ENST00000617799.1:c.625-17T= ENSP00000483040.1:n.625-17T=
NM_016038.2:c.625-17T= , LRG_104t1:c.625-17T= NP_057122.2:n.625-17T=
NM_016038.3:c.625-17T= NP_057122.2:n.625-17T=
NM_016038.4:c.625-17T= MANE Select NP_057122.2:n.625-17T=