Canonical Allele Identifier: CA4279190

Gene: SBDS

Linked Data

• dbSNP Id: rs774761244
• ExAC: 7:66458396 A / C
• gnomAD v2: 7-66458396-A-C
• gnomAD v3: 7-66993409-A-C
• gnomAD v4: 7-66993409-A-C
• MyVariant Identifiers: chr7:g.66458396A>C (hg19) ; chr7:g.66993409A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66993409A>C , CM000669.2:g.66993409A>C	GRCh38
NC_000007.13:g.66458396A>C , CM000669.1:g.66458396A>C	GRCh37
NC_000007.12:g.66095831A>C	NCBI36
NG_007277.1:g.7193T>G , LRG_104:g.7193T>G
NG_033069.1:g.1605A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.259T>G	ENSP00000394586.1:p.Ter87Glu
ENST00000697860.1:n.234T>G
ENST00000697861.1:c.258+803T>G	ENSP00000513460.1:n.258+803T>G
ENST00000697862.1:c.267T>G	ENSP00000513461.1:p.Thr89=
ENST00000697863.1:c.210T>G	ENSP00000513462.1:p.Thr70=
ENST00000697864.1:n.1411T>G
ENST00000697865.1:c.210T>G	ENSP00000513463.1:p.Thr70=
ENST00000697866.1:c.-52T>G	ENSP00000513464.1:n.-52T>G
ENST00000697867.1:c.107T>G
ENST00000697868.1:c.*31T>G	ENSP00000513466.1:n.*31T>G
ENST00000697869.1:c.*2T>G	ENSP00000513467.1:n.*2T>G
ENST00000697897.1:c.267T>G	ENSP00000513469.1:p.Thr89=
ENST00000246868.7:c.267T>G MANE Select	ENSP00000246868.2:p.Thr89=
ENST00000246868.6:c.267T>G	ENSP00000246868.2:p.Thr89=
ENST00000414306.5:c.259T>G	ENSP00000394586.1:p.Ter87Glu
ENST00000463579.1:n.156T>G
ENST00000490953.5:n.408T>G
ENST00000617799.1:c.267T>G	ENSP00000483040.1:p.Thr89=
NM_016038.2:c.267T>G , LRG_104t1:c.267T>G	NP_057122.2:p.Thr89=
NM_016038.3:c.267T>G	NP_057122.2:p.Thr89=
NM_016038.4:c.267T>G MANE Select	NP_057122.2:p.Thr89=