Canonical Allele Identifier: CA342191

Gene: SBDS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66994329G>A , CM000669.2:g.66994329G>A	GRCh38
NC_000007.13:g.66459316G>A , CM000669.1:g.66459316G>A	GRCh37
NC_000007.12:g.66096751G>A	NCBI36
NG_007277.1:g.6273C>T , LRG_104:g.6273C>T
NG_033069.1:g.2525G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016038.4:c.141C>T MANE Select	NP_057122.2:p.Leu47=
ENST00000246868.7:c.141C>T MANE Select	ENSP00000246868.2:p.Leu47=
NM_016038.2:c.141C>T , LRG_104t1:c.141C>T	NP_057122.2:p.Leu47=
NM_016038.3:c.141C>T	NP_057122.2:p.Leu47=
ENST00000246868.6:c.141C>T	ENSP00000246868.2:p.Leu47=
ENST00000414306.5:c.141C>T	ENSP00000394586.1:p.Leu47=
ENST00000414306.6:c.141C>T	ENSP00000394586.1:p.Leu47=
ENST00000463579.1:n.38C>T
ENST00000490953.5:n.290C>T
ENST00000617799.1:c.141C>T	ENSP00000483040.1:p.Leu47=
ENST00000697860.1:n.108C>T
ENST00000697861.1:c.141C>T	ENSP00000513460.1:p.Leu47=
ENST00000697862.1:c.141C>T	ENSP00000513461.1:p.Leu47=
ENST00000697863.1:c.84C>T	ENSP00000513462.1:p.Leu28=
ENST00000697864.1:n.1285C>T
ENST00000697865.1:c.84C>T	ENSP00000513463.1:p.Leu28=
ENST00000697866.1:c.-178C>T	ENSP00000513464.1:n.-178C>T
ENST00000697868.1:c.129-47C>T	ENSP00000513466.1:n.129-47C>T
ENST00000697869.1:c.129-52C>T	ENSP00000513467.1:n.129-52C>T
ENST00000697897.1:c.141C>T	ENSP00000513469.1:p.Leu47=