Canonical Allele Identifier: CA1714331548

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993391T= , CM000669.2:g.66993391T=	GRCh38
NC_000007.13:g.66458378T= , CM000669.1:g.66458378T=	GRCh37
NC_000007.12:g.66095813T=	NCBI36
NG_007277.1:g.7211A= , LRG_104:g.7211A=
NG_033069.1:g.1587T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*16A=	ENSP00000394586.1:n.*16A=
ENST00000697860.1:n.252A=
ENST00000697861.1:c.258+821A=	ENSP00000513460.1:n.258+821A=
ENST00000697862.1:c.285A=	ENSP00000513461.1:p.Val95=
ENST00000697863.1:c.228A=	ENSP00000513462.1:p.Val76=
ENST00000697864.1:n.1429A=
ENST00000697865.1:c.228A=	ENSP00000513463.1:p.Val76=
ENST00000697866.1:c.-34A=	ENSP00000513464.1:n.-34A=
ENST00000697867.1:c.125A=
ENST00000697868.1:c.*49A=	ENSP00000513466.1:n.*49A=
ENST00000697869.1:c.*20A=	ENSP00000513467.1:n.*20A=
ENST00000697897.1:c.285A=	ENSP00000513469.1:p.Val95=
ENST00000246868.7:c.285A= MANE Select	ENSP00000246868.2:p.Val95=
ENST00000246868.6:c.285A=	ENSP00000246868.2:p.Val95=
ENST00000414306.5:c.*16A=	ENSP00000394586.1:n.*16A=
ENST00000463579.1:n.174A=
ENST00000490953.5:n.426A=
ENST00000617799.1:c.285A=	ENSP00000483040.1:p.Val95=
NM_016038.2:c.285A= , LRG_104t1:c.285A=	NP_057122.2:p.Val95=
NM_016038.3:c.285A=	NP_057122.2:p.Val95=
NM_016038.4:c.285A= MANE Select	NP_057122.2:p.Val95=