Canonical Allele Identifier: CA1714331546

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993385A= , CM000669.2:g.66993385A=	GRCh38
NC_000007.13:g.66458372A= , CM000669.1:g.66458372A=	GRCh37
NC_000007.12:g.66095807A=	NCBI36
NG_007277.1:g.7217T= , LRG_104:g.7217T=
NG_033069.1:g.1581A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*22T=	ENSP00000394586.1:n.*22T=
ENST00000697860.1:n.258T=
ENST00000697861.1:c.258+827T=	ENSP00000513460.1:n.258+827T=
ENST00000697862.1:c.291T=	ENSP00000513461.1:p.Asp97=
ENST00000697863.1:c.234T=	ENSP00000513462.1:p.Asp78=
ENST00000697864.1:n.1435T=
ENST00000697865.1:c.234T=	ENSP00000513463.1:p.Asp78=
ENST00000697866.1:c.-28T=	ENSP00000513464.1:n.-28T=
ENST00000697867.1:c.131T=
ENST00000697868.1:c.*55T=	ENSP00000513466.1:n.*55T=
ENST00000697869.1:c.*26T=	ENSP00000513467.1:n.*26T=
ENST00000697897.1:c.291T=	ENSP00000513469.1:p.Asp97=
ENST00000246868.7:c.291T= MANE Select	ENSP00000246868.2:p.Asp97=
ENST00000246868.6:c.291T=	ENSP00000246868.2:p.Asp97=
ENST00000414306.5:c.*22T=	ENSP00000394586.1:n.*22T=
ENST00000463579.1:n.180T=
ENST00000490953.5:n.432T=
ENST00000617799.1:c.291T=	ENSP00000483040.1:p.Asp97=
NM_016038.2:c.291T= , LRG_104t1:c.291T=	NP_057122.2:p.Asp97=
NM_016038.3:c.291T=	NP_057122.2:p.Asp97=
NM_016038.4:c.291T= MANE Select	NP_057122.2:p.Asp97=