Canonical Allele Identifier: CA1714331405

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993291T= , CM000669.2:g.66993291T=	GRCh38
NC_000007.13:g.66458278T= , CM000669.1:g.66458278T=	GRCh37
NC_000007.12:g.66095713T=	NCBI36
NG_007277.1:g.7311A= , LRG_104:g.7311A=
NG_033069.1:g.1487T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*116A=	ENSP00000394586.1:n.*116A=
ENST00000697860.1:n.352A=
ENST00000697861.1:c.258+921A=	ENSP00000513460.1:n.258+921A=
ENST00000697862.1:c.385A=	ENSP00000513461.1:p.Thr129=
ENST00000697863.1:c.328A=	ENSP00000513462.1:p.Thr110=
ENST00000697864.1:n.1529A=
ENST00000697865.1:c.328A=	ENSP00000513463.1:p.Thr110=
ENST00000697866.1:c.67A=	ENSP00000513464.1:p.Thr23=
ENST00000697867.1:c.225A=
ENST00000697868.1:c.*149A=	ENSP00000513466.1:n.*149A=
ENST00000697869.1:c.*120A=	ENSP00000513467.1:n.*120A=
ENST00000697897.1:c.385A=	ENSP00000513469.1:p.Thr129=
ENST00000246868.7:c.385A= MANE Select	ENSP00000246868.2:p.Thr129=
ENST00000246868.6:c.385A=	ENSP00000246868.2:p.Thr129=
ENST00000414306.5:c.*116A=	ENSP00000394586.1:n.*116A=
ENST00000463579.1:n.274A=
ENST00000490953.5:n.526A=
ENST00000617799.1:c.385A=	ENSP00000483040.1:p.Thr129=
NM_016038.2:c.385A= , LRG_104t1:c.385A=	NP_057122.2:p.Thr129=
NM_016038.3:c.385A=	NP_057122.2:p.Thr129=
NM_016038.4:c.385A= MANE Select	NP_057122.2:p.Thr129=