Canonical Allele Identifier: CA1714369653
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66988383C= , CM000669.2:g.66988383C= GRCh38
NC_000007.13:g.66453370C= , CM000669.1:g.66453370C= GRCh37
NC_000007.12:g.66090805C= NCBI36
NG_007277.1:g.12219G= , LRG_104:g.12219G=

Transcript Alleles

HGVS Amino-acid change
ENST00000414306.6:c.*472G= ENSP00000394586.1:n.*472G=
ENST00000697860.1:n.708G=
ENST00000697861.1:c.540G= ENSP00000513460.1:p.Glu180=
ENST00000697862.1:c.*182G= ENSP00000513461.1:n.*182G=
ENST00000697863.1:c.684G= ENSP00000513462.1:p.Glu228=
ENST00000697864.1:n.1885G=
ENST00000697865.1:c.684G= ENSP00000513463.1:p.Glu228=
ENST00000697866.1:c.423G= ENSP00000513464.1:p.Glu141=
ENST00000697867.1:c.719G=
ENST00000697868.1:c.*505G= ENSP00000513466.1:n.*505G=
ENST00000697897.1:c.741G= ENSP00000513469.1:p.Glu247=
ENST00000246868.7:c.741G= MANE Select ENSP00000246868.2:p.Glu247=
ENST00000246868.6:c.741G= ENSP00000246868.2:p.Glu247=
ENST00000414306.5:c.*472G= ENSP00000394586.1:n.*472G=
ENST00000617799.1:c.741G= ENSP00000483040.1:p.Glu247=
NM_016038.2:c.741G= , LRG_104t1:c.741G= NP_057122.2:p.Glu247=
NM_016038.3:c.741G= NP_057122.2:p.Glu247=
NM_016038.4:c.741G= MANE Select NP_057122.2:p.Glu247=