Canonical Allele Identifier: CA1714331532

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993368T= , CM000669.2:g.66993368T=	GRCh38
NC_000007.13:g.66458355T= , CM000669.1:g.66458355T=	GRCh37
NC_000007.12:g.66095790T=	NCBI36
NG_007277.1:g.7234A= , LRG_104:g.7234A=
NG_033069.1:g.1564T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*39A=	ENSP00000394586.1:n.*39A=
ENST00000697860.1:n.275A=
ENST00000697861.1:c.258+844A=	ENSP00000513460.1:n.258+844A=
ENST00000697862.1:c.308A=	ENSP00000513461.1:p.Gln103=
ENST00000697863.1:c.251A=	ENSP00000513462.1:p.Gln84=
ENST00000697864.1:n.1452A=
ENST00000697865.1:c.251A=	ENSP00000513463.1:p.Gln84=
ENST00000697866.1:c.-11A=	ENSP00000513464.1:n.-11A=
ENST00000697867.1:c.148A=
ENST00000697868.1:c.*72A=	ENSP00000513466.1:n.*72A=
ENST00000697869.1:c.*43A=	ENSP00000513467.1:n.*43A=
ENST00000697897.1:c.308A=	ENSP00000513469.1:p.Gln103=
ENST00000246868.7:c.308A= MANE Select	ENSP00000246868.2:p.Gln103=
ENST00000246868.6:c.308A=	ENSP00000246868.2:p.Gln103=
ENST00000414306.5:c.*39A=	ENSP00000394586.1:n.*39A=
ENST00000463579.1:n.197A=
ENST00000490953.5:n.449A=
ENST00000617799.1:c.308A=	ENSP00000483040.1:p.Gln103=
NM_016038.2:c.308A= , LRG_104t1:c.308A=	NP_057122.2:p.Gln103=
NM_016038.3:c.308A=	NP_057122.2:p.Gln103=
NM_016038.4:c.308A= MANE Select	NP_057122.2:p.Gln103=