Canonical Allele Identifier: CA1714369703
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66988482C= , CM000669.2:g.66988482C= GRCh38
NC_000007.13:g.66453469C= , CM000669.1:g.66453469C= GRCh37
NC_000007.12:g.66090904C= NCBI36
NG_007277.1:g.12120G= , LRG_104:g.12120G=

Transcript Alleles

HGVS Amino-acid change
ENST00000414306.6:c.*373G= ENSP00000394586.1:n.*373G=
ENST00000697860.1:n.609G=
ENST00000697861.1:c.441G= ENSP00000513460.1:p.Pro147=
ENST00000697862.1:c.*83G= ENSP00000513461.1:n.*83G=
ENST00000697863.1:c.585G= ENSP00000513462.1:p.Pro195=
ENST00000697864.1:n.1786G=
ENST00000697865.1:c.585G= ENSP00000513463.1:p.Pro195=
ENST00000697866.1:c.324G= ENSP00000513464.1:p.Pro108=
ENST00000697867.1:c.620G=
ENST00000697868.1:c.*406G= ENSP00000513466.1:n.*406G=
ENST00000697897.1:c.642G= ENSP00000513469.1:p.Pro214=
ENST00000246868.7:c.642G= MANE Select ENSP00000246868.2:p.Pro214=
ENST00000246868.6:c.642G= ENSP00000246868.2:p.Pro214=
ENST00000414306.5:c.*373G= ENSP00000394586.1:n.*373G=
ENST00000617799.1:c.642G= ENSP00000483040.1:p.Pro214=
NM_016038.2:c.642G= , LRG_104t1:c.642G= NP_057122.2:p.Pro214=
NM_016038.3:c.642G= NP_057122.2:p.Pro214=
NM_016038.4:c.642G= MANE Select NP_057122.2:p.Pro214=