Canonical Allele Identifier: CA455780083

Gene: SBDS

Linked Data

• MyVariant Identifiers: chr7:g.66458338T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993351T>G , CM000669.2:g.66993351T>G	GRCh38
NC_000007.13:g.66458338T>G , CM000669.1:g.66458338T>G	GRCh37
NC_000007.12:g.66095773T>G	NCBI36
NG_007277.1:g.7251A>C , LRG_104:g.7251A>C
NG_033069.1:g.1547T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*56A>C	ENSP00000394586.1:n.*56A>C
ENST00000697860.1:n.292A>C
ENST00000697861.1:c.258+861A>C	ENSP00000513460.1:n.258+861A>C
ENST00000697862.1:c.325A>C	ENSP00000513461.1:p.Arg109=
ENST00000697863.1:c.268A>C	ENSP00000513462.1:p.Arg90=
ENST00000697864.1:n.1469A>C
ENST00000697865.1:c.268A>C	ENSP00000513463.1:p.Arg90=
ENST00000697866.1:c.7A>C	ENSP00000513464.1:p.Arg3=
ENST00000697867.1:c.165A>C
ENST00000697868.1:c.*89A>C	ENSP00000513466.1:n.*89A>C
ENST00000697869.1:c.*60A>C	ENSP00000513467.1:n.*60A>C
ENST00000697897.1:c.325A>C	ENSP00000513469.1:p.Arg109=
ENST00000246868.7:c.325A>C MANE Select	ENSP00000246868.2:p.Arg109=
ENST00000246868.6:c.325A>C	ENSP00000246868.2:p.Arg109=
ENST00000414306.5:c.*56A>C	ENSP00000394586.1:n.*56A>C
ENST00000463579.1:n.214A>C
ENST00000490953.5:n.466A>C
ENST00000617799.1:c.325A>C	ENSP00000483040.1:p.Arg109=
NM_016038.2:c.325A>C , LRG_104t1:c.325A>C	NP_057122.2:p.Arg109=
NM_016038.3:c.325A>C	NP_057122.2:p.Arg109=
NM_016038.4:c.325A>C MANE Select	NP_057122.2:p.Arg109=