Canonical Allele Identifier: CA1714331492

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993356A= , CM000669.2:g.66993356A=	GRCh38
NC_000007.13:g.66458343A= , CM000669.1:g.66458343A=	GRCh37
NC_000007.12:g.66095778A=	NCBI36
NG_007277.1:g.7246T= , LRG_104:g.7246T=
NG_033069.1:g.1552A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*51T=	ENSP00000394586.1:n.*51T=
ENST00000697860.1:n.287T=
ENST00000697861.1:c.258+856T=	ENSP00000513460.1:n.258+856T=
ENST00000697862.1:c.320T=	ENSP00000513461.1:p.Met107=
ENST00000697863.1:c.263T=	ENSP00000513462.1:p.Met88=
ENST00000697864.1:n.1464T=
ENST00000697865.1:c.263T=	ENSP00000513463.1:p.Met88=
ENST00000697866.1:c.2T=	ENSP00000513464.1:p.Met1=
ENST00000697867.1:c.160T=
ENST00000697868.1:c.*84T=	ENSP00000513466.1:n.*84T=
ENST00000697869.1:c.*55T=	ENSP00000513467.1:n.*55T=
ENST00000697897.1:c.320T=	ENSP00000513469.1:p.Met107=
ENST00000246868.7:c.320T= MANE Select	ENSP00000246868.2:p.Met107=
ENST00000246868.6:c.320T=	ENSP00000246868.2:p.Met107=
ENST00000414306.5:c.*51T=	ENSP00000394586.1:n.*51T=
ENST00000463579.1:n.209T=
ENST00000490953.5:n.461T=
ENST00000617799.1:c.320T=	ENSP00000483040.1:p.Met107=
NM_016038.2:c.320T= , LRG_104t1:c.320T=	NP_057122.2:p.Met107=
NM_016038.3:c.320T=	NP_057122.2:p.Met107=
NM_016038.4:c.320T= MANE Select	NP_057122.2:p.Met107=