Canonical Allele Identifier: CA4279170
Gene: SBDS HGNC NCBI

Linked Data

ClinVar Variation Id: 3226706
ClinVar RCV Id: RCV004521887
dbSNP Id: rs766637596
gnomAD v2: 7-66458276-G-A
gnomAD v3: 7-66993289-G-A
gnomAD v4: 7-66993289-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66993289G>A , CM000669.2:g.66993289G>A GRCh38
NC_000007.13:g.66458276G>A , CM000669.1:g.66458276G>A GRCh37
NC_000007.12:g.66095711G>A NCBI36
NG_007277.1:g.7313C>T , LRG_104:g.7313C>T
NG_033069.1:g.1485G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000414306.6:c.*118C>T ENSP00000394586.1:n.*118C>T
ENST00000697860.1:n.354C>T
ENST00000697861.1:c.258+923C>T ENSP00000513460.1:n.258+923C>T
ENST00000697862.1:c.387C>T ENSP00000513461.1:p.Thr129=
ENST00000697863.1:c.330C>T ENSP00000513462.1:p.Thr110=
ENST00000697864.1:n.1531C>T
ENST00000697865.1:c.330C>T ENSP00000513463.1:p.Thr110=
ENST00000697866.1:c.69C>T ENSP00000513464.1:p.Thr23=
ENST00000697867.1:c.227C>T
ENST00000697868.1:c.*151C>T ENSP00000513466.1:n.*151C>T
ENST00000697869.1:c.*122C>T ENSP00000513467.1:n.*122C>T
ENST00000697897.1:c.387C>T ENSP00000513469.1:p.Thr129=
ENST00000246868.7:c.387C>T MANE Select ENSP00000246868.2:p.Thr129=
ENST00000246868.6:c.387C>T ENSP00000246868.2:p.Thr129=
ENST00000414306.5:c.*118C>T ENSP00000394586.1:n.*118C>T
ENST00000463579.1:n.276C>T
ENST00000490953.5:n.528C>T
ENST00000617799.1:c.387C>T ENSP00000483040.1:p.Thr129=
NM_016038.2:c.387C>T , LRG_104t1:c.387C>T NP_057122.2:p.Thr129=
NM_016038.3:c.387C>T NP_057122.2:p.Thr129=
NM_016038.4:c.387C>T MANE Select NP_057122.2:p.Thr129=