Canonical Allele Identifier: CA4279130

Gene: SBDS

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66991136C>T , CM000669.2:g.66991136C>T	GRCh38
NC_000007.13:g.66456123C>T , CM000669.1:g.66456123C>T	GRCh37
NC_000007.12:g.66093558C>T	NCBI36
NG_007277.1:g.9466G>A , LRG_104:g.9466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*355+1G>A	ENSP00000394586.1:n.*355+1G>A
ENST00000697860.1:n.591+1G>A
ENST00000697861.1:c.423+1G>A	ENSP00000513460.1:n.423+1G>A
ENST00000697862.1:c.*65+1G>A	ENSP00000513461.1:n.*65+1G>A
ENST00000697863.1:c.567+1G>A	ENSP00000513462.1:n.567+1G>A
ENST00000697864.1:n.1768+1G>A
ENST00000697865.1:c.567+1G>A	ENSP00000513463.1:n.567+1G>A
ENST00000697866.1:c.306+1G>A	ENSP00000513464.1:n.306+1G>A
ENST00000697867.1:c.464+1G>A
ENST00000697868.1:c.*388+1G>A	ENSP00000513466.1:n.*388+1G>A
ENST00000697897.1:c.624+1G>A	ENSP00000513469.1:n.624+1G>A
ENST00000246868.7:c.624+1G>A MANE Select	ENSP00000246868.2:n.624+1G>A
ENST00000246868.6:c.624+1G>A	ENSP00000246868.2:n.624+1G>A
ENST00000414306.5:c.*355+1G>A	ENSP00000394586.1:n.*355+1G>A
ENST00000490953.5:n.766G>A
ENST00000617799.1:c.624+1G>A	ENSP00000483040.1:n.624+1G>A
NM_016038.2:c.624+1G>A , LRG_104t1:c.624+1G>A	NP_057122.2:n.624+1G>A
NM_016038.3:c.624+1G>A	NP_057122.2:n.624+1G>A
NM_016038.4:c.624+1G>A MANE Select	NP_057122.2:n.624+1G>A