Canonical Allele Identifier: CA1714331502

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993360G= , CM000669.2:g.66993360G=	GRCh38
NC_000007.13:g.66458347G= , CM000669.1:g.66458347G=	GRCh37
NC_000007.12:g.66095782G=	NCBI36
NG_007277.1:g.7242C= , LRG_104:g.7242C=
NG_033069.1:g.1556G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*47C=	ENSP00000394586.1:n.*47C=
ENST00000697860.1:n.283C=
ENST00000697861.1:c.258+852C=	ENSP00000513460.1:n.258+852C=
ENST00000697862.1:c.316C=	ENSP00000513461.1:p.Gln106=
ENST00000697863.1:c.259C=	ENSP00000513462.1:p.Gln87=
ENST00000697864.1:n.1460C=
ENST00000697865.1:c.259C=	ENSP00000513463.1:p.Gln87=
ENST00000697866.1:c.-3C=	ENSP00000513464.1:n.-3C=
ENST00000697867.1:c.156C=
ENST00000697868.1:c.*80C=	ENSP00000513466.1:n.*80C=
ENST00000697869.1:c.*51C=	ENSP00000513467.1:n.*51C=
ENST00000697897.1:c.316C=	ENSP00000513469.1:p.Gln106=
ENST00000246868.7:c.316C= MANE Select	ENSP00000246868.2:p.Gln106=
ENST00000246868.6:c.316C=	ENSP00000246868.2:p.Gln106=
ENST00000414306.5:c.*47C=	ENSP00000394586.1:n.*47C=
ENST00000463579.1:n.205C=
ENST00000490953.5:n.457C=
ENST00000617799.1:c.316C=	ENSP00000483040.1:p.Gln106=
NM_016038.2:c.316C= , LRG_104t1:c.316C=	NP_057122.2:p.Gln106=
NM_016038.3:c.316C=	NP_057122.2:p.Gln106=
NM_016038.4:c.316C= MANE Select	NP_057122.2:p.Gln106=