Canonical Allele Identifier: CA1714331484

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993344A= , CM000669.2:g.66993344A=	GRCh38
NC_000007.13:g.66458331A= , CM000669.1:g.66458331A=	GRCh37
NC_000007.12:g.66095766A=	NCBI36
NG_007277.1:g.7258T= , LRG_104:g.7258T=
NG_033069.1:g.1540A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*63T=	ENSP00000394586.1:n.*63T=
ENST00000697860.1:n.299T=
ENST00000697861.1:c.258+868T=	ENSP00000513460.1:n.258+868T=
ENST00000697862.1:c.332T=	ENSP00000513461.1:p.Ile111=
ENST00000697863.1:c.275T=	ENSP00000513462.1:p.Ile92=
ENST00000697864.1:n.1476T=
ENST00000697865.1:c.275T=	ENSP00000513463.1:p.Ile92=
ENST00000697866.1:c.14T=	ENSP00000513464.1:p.Ile5=
ENST00000697867.1:c.172T=
ENST00000697868.1:c.*96T=	ENSP00000513466.1:n.*96T=
ENST00000697869.1:c.*67T=	ENSP00000513467.1:n.*67T=
ENST00000697897.1:c.332T=	ENSP00000513469.1:p.Ile111=
ENST00000246868.7:c.332T= MANE Select	ENSP00000246868.2:p.Ile111=
ENST00000246868.6:c.332T=	ENSP00000246868.2:p.Ile111=
ENST00000414306.5:c.*63T=	ENSP00000394586.1:n.*63T=
ENST00000463579.1:n.221T=
ENST00000490953.5:n.473T=
ENST00000617799.1:c.332T=	ENSP00000483040.1:p.Ile111=
NM_016038.2:c.332T= , LRG_104t1:c.332T=	NP_057122.2:p.Ile111=
NM_016038.3:c.332T=	NP_057122.2:p.Ile111=
NM_016038.4:c.332T= MANE Select	NP_057122.2:p.Ile111=