Canonical Allele Identifier: CA1714331415

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993299C= , CM000669.2:g.66993299C=	GRCh38
NC_000007.13:g.66458286C= , CM000669.1:g.66458286C=	GRCh37
NC_000007.12:g.66095721C=	NCBI36
NG_007277.1:g.7303G= , LRG_104:g.7303G=
NG_033069.1:g.1495C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*108G=	ENSP00000394586.1:n.*108G=
ENST00000697860.1:n.344G=
ENST00000697861.1:c.258+913G=	ENSP00000513460.1:n.258+913G=
ENST00000697862.1:c.377G=	ENSP00000513461.1:p.Arg126=
ENST00000697863.1:c.320G=	ENSP00000513462.1:p.Arg107=
ENST00000697864.1:n.1521G=
ENST00000697865.1:c.320G=	ENSP00000513463.1:p.Arg107=
ENST00000697866.1:c.59G=	ENSP00000513464.1:p.Arg20=
ENST00000697867.1:c.217G=
ENST00000697868.1:c.*141G=	ENSP00000513466.1:n.*141G=
ENST00000697869.1:c.*112G=	ENSP00000513467.1:n.*112G=
ENST00000697897.1:c.377G=	ENSP00000513469.1:p.Arg126=
ENST00000246868.7:c.377G= MANE Select	ENSP00000246868.2:p.Arg126=
ENST00000246868.6:c.377G=	ENSP00000246868.2:p.Arg126=
ENST00000414306.5:c.*108G=	ENSP00000394586.1:n.*108G=
ENST00000463579.1:n.266G=
ENST00000490953.5:n.518G=
ENST00000617799.1:c.377G=	ENSP00000483040.1:p.Arg126=
NM_016038.2:c.377G= , LRG_104t1:c.377G=	NP_057122.2:p.Arg126=
NM_016038.3:c.377G=	NP_057122.2:p.Arg126=
NM_016038.4:c.377G= MANE Select	NP_057122.2:p.Arg126=