Canonical Allele Identifier: CA1714369710
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66988500C= , CM000669.2:g.66988500C= GRCh38
NC_000007.13:g.66453487C= , CM000669.1:g.66453487C= GRCh37
NC_000007.12:g.66090922C= NCBI36
NG_007277.1:g.12102G= , LRG_104:g.12102G=

Transcript Alleles

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