Canonical Allele Identifier: CA1714329468
Gene: SBDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66991263C= , CM000669.2:g.66991263C= GRCh38
NC_000007.13:g.66456250C= , CM000669.1:g.66456250C= GRCh37
NC_000007.12:g.66093685C= NCBI36
NG_007277.1:g.9339G= , LRG_104:g.9339G=

Transcript Alleles

HGVS Amino-acid change
ENST00000414306.6:c.*229G= ENSP00000394586.1:n.*229G=
ENST00000697860.1:n.465G=
ENST00000697861.1:c.297G= ENSP00000513460.1:p.Lys99=
ENST00000697862.1:c.460-41G= ENSP00000513461.1:n.460-41G=
ENST00000697863.1:c.441G= ENSP00000513462.1:p.Lys147=
ENST00000697864.1:n.1642G=
ENST00000697865.1:c.441G= ENSP00000513463.1:p.Lys147=
ENST00000697866.1:c.180G= ENSP00000513464.1:p.Lys60=
ENST00000697867.1:c.338G=
ENST00000697868.1:c.*262G= ENSP00000513466.1:n.*262G=
ENST00000697897.1:c.498G= ENSP00000513469.1:p.Lys166=
ENST00000246868.7:c.498G= MANE Select ENSP00000246868.2:p.Lys166=
ENST00000246868.6:c.498G= ENSP00000246868.2:p.Lys166=
ENST00000414306.5:c.*229G= ENSP00000394586.1:n.*229G=
ENST00000463579.1:n.387G=
ENST00000490953.5:n.639G=
ENST00000617799.1:c.498G= ENSP00000483040.1:p.Lys166=
NM_016038.2:c.498G= , LRG_104t1:c.498G= NP_057122.2:p.Lys166=
NM_016038.3:c.498G= NP_057122.2:p.Lys166=
NM_016038.4:c.498G= MANE Select NP_057122.2:p.Lys166=