Canonical Allele Identifier: CA4279178

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993331C>T , CM000669.2:g.66993331C>T	GRCh38
NC_000007.13:g.66458318C>T , CM000669.1:g.66458318C>T	GRCh37
NC_000007.12:g.66095753C>T	NCBI36
NG_007277.1:g.7271G>A , LRG_104:g.7271G>A
NG_033069.1:g.1527C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016038.4:c.345G>A MANE Select	NP_057122.2:p.Val115=
ENST00000246868.7:c.345G>A MANE Select	ENSP00000246868.2:p.Val115=
NM_016038.2:c.345G>A , LRG_104t1:c.345G>A	NP_057122.2:p.Val115=
NM_016038.3:c.345G>A	NP_057122.2:p.Val115=
ENST00000246868.6:c.345G>A	ENSP00000246868.2:p.Val115=
ENST00000414306.5:c.*76G>A	ENSP00000394586.1:n.*76G>A
ENST00000414306.6:c.*76G>A	ENSP00000394586.1:n.*76G>A
ENST00000463579.1:n.234G>A
ENST00000490953.5:n.486G>A
ENST00000617799.1:c.345G>A	ENSP00000483040.1:p.Val115=
ENST00000697860.1:n.312G>A
ENST00000697861.1:c.258+881G>A	ENSP00000513460.1:n.258+881G>A
ENST00000697862.1:c.345G>A	ENSP00000513461.1:p.Val115=
ENST00000697863.1:c.288G>A	ENSP00000513462.1:p.Val96=
ENST00000697864.1:n.1489G>A
ENST00000697865.1:c.288G>A	ENSP00000513463.1:p.Val96=
ENST00000697866.1:c.27G>A	ENSP00000513464.1:p.Val9=
ENST00000697867.1:c.185G>A
ENST00000697868.1:c.*109G>A	ENSP00000513466.1:n.*109G>A
ENST00000697869.1:c.*80G>A	ENSP00000513467.1:n.*80G>A
ENST00000697897.1:c.345G>A	ENSP00000513469.1:p.Val115=