Canonical Allele Identifier: CA1714331577

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993415A= , CM000669.2:g.66993415A=	GRCh38
NC_000007.13:g.66458402A= , CM000669.1:g.66458402A=	GRCh37
NC_000007.12:g.66095837A=	NCBI36
NG_007277.1:g.7187T= , LRG_104:g.7187T=
NG_033069.1:g.1611A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.253T=	ENSP00000394586.1:p.Phe85=
ENST00000697860.1:n.228T=
ENST00000697861.1:c.258+797T=	ENSP00000513460.1:n.258+797T=
ENST00000697862.1:c.261T=	ENSP00000513461.1:p.Ile87=
ENST00000697863.1:c.204T=	ENSP00000513462.1:p.Ile68=
ENST00000697864.1:n.1405T=
ENST00000697865.1:c.204T=	ENSP00000513463.1:p.Ile68=
ENST00000697866.1:c.-58T=	ENSP00000513464.1:n.-58T=
ENST00000697867.1:c.101T=
ENST00000697868.1:c.*25T=	ENSP00000513466.1:n.*25T=
ENST00000697869.1:c.197T=	ENSP00000513467.1:p.Phe66=
ENST00000697897.1:c.261T=	ENSP00000513469.1:p.Ile87=
ENST00000246868.7:c.261T= MANE Select	ENSP00000246868.2:p.Ile87=
ENST00000246868.6:c.261T=	ENSP00000246868.2:p.Ile87=
ENST00000414306.5:c.253T=	ENSP00000394586.1:p.Phe85=
ENST00000463579.1:n.150T=
ENST00000490953.5:n.402T=
ENST00000617799.1:c.261T=	ENSP00000483040.1:p.Ile87=
NM_016038.2:c.261T= , LRG_104t1:c.261T=	NP_057122.2:p.Ile87=
NM_016038.3:c.261T=	NP_057122.2:p.Ile87=
NM_016038.4:c.261T= MANE Select	NP_057122.2:p.Ile87=