Canonical Allele Identifier: CA1714332556

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66994210A= , CM000669.2:g.66994210A=	GRCh38
NC_000007.13:g.66459197A= , CM000669.1:g.66459197A=	GRCh37
NC_000007.12:g.66096632A=	NCBI36
NG_007277.1:g.6392T= , LRG_104:g.6392T=
NG_033069.1:g.2406A=

Transcript Alleles

HGVS	Amino-acid Change
NM_016038.4:c.258+2T= MANE Select	NP_057122.2:n.258+2T=
ENST00000246868.7:c.258+2T= MANE Select	ENSP00000246868.2:n.258+2T=
NM_016038.2:c.258+2T= , LRG_104t1:c.258+2T=	NP_057122.2:n.258+2T=
NM_016038.3:c.258+2T=	NP_057122.2:n.258+2T=
ENST00000246868.6:c.258+2T=	ENSP00000246868.2:n.258+2T=
ENST00000414306.5:c.250+10T=	ENSP00000394586.1:n.250+10T=
ENST00000414306.6:c.250+10T=	ENSP00000394586.1:n.250+10T=
ENST00000463579.1:n.147+10T=
ENST00000490953.5:n.399+10T=
ENST00000617799.1:c.258+2T=	ENSP00000483040.1:n.258+2T=
ENST00000697860.1:n.225+2T=
ENST00000697861.1:c.258+2T=	ENSP00000513460.1:n.258+2T=
ENST00000697862.1:c.258+2T=	ENSP00000513461.1:n.258+2T=
ENST00000697863.1:c.201+2T=	ENSP00000513462.1:n.201+2T=
ENST00000697864.1:n.1402+2T=
ENST00000697865.1:c.201+2T=	ENSP00000513463.1:n.201+2T=
ENST00000697866.1:c.-61+2T=	ENSP00000513464.1:n.-61+2T=
ENST00000697867.1:c.98+2T=
ENST00000697868.1:c.*22+2T=	ENSP00000513466.1:n.*22+2T=
ENST00000697869.1:c.194+2T=	ENSP00000513467.1:n.194+2T=
ENST00000697897.1:c.258+2T=	ENSP00000513469.1:n.258+2T=