Canonical Allele Identifier: CA4279098

Gene: SBDS

Linked Data

• dbSNP Id: rs779019501
• ExAC: 7:66453374 T / C
• gnomAD v2: 7-66453374-T-C
• gnomAD v4: 7-66988387-T-C
• MyVariant Identifiers: chr7:g.66453374T>C (hg19) ; chr7:g.66453374_66453377delinsCCTC (hg19) ; chr7:g.66988387T>C (hg38) ; chr7:g.66988387_66988390delinsCCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988387T>C , CM000669.2:g.66988387T>C	GRCh38
NC_000007.13:g.66453374T>C , CM000669.1:g.66453374T>C	GRCh37
NC_000007.12:g.66090809T>C	NCBI36
NG_007277.1:g.12215A>G , LRG_104:g.12215A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*468A>G	ENSP00000394586.1:n.*468A>G
ENST00000697860.1:n.704A>G
ENST00000697861.1:c.536A>G	ENSP00000513460.1:p.Asp179Gly
ENST00000697862.1:c.*178A>G	ENSP00000513461.1:n.*178A>G
ENST00000697863.1:c.680A>G	ENSP00000513462.1:p.Asp227Gly
ENST00000697864.1:n.1881A>G
ENST00000697865.1:c.680A>G	ENSP00000513463.1:p.Asp227Gly
ENST00000697866.1:c.419A>G	ENSP00000513464.1:p.Asp140Gly
ENST00000697867.1:c.715A>G
ENST00000697868.1:c.*501A>G	ENSP00000513466.1:n.*501A>G
ENST00000697897.1:c.737A>G	ENSP00000513469.1:p.Asp246Gly
ENST00000246868.7:c.737A>G MANE Select	ENSP00000246868.2:p.Asp246Gly
ENST00000246868.6:c.737A>G	ENSP00000246868.2:p.Asp246Gly
ENST00000414306.5:c.*468A>G	ENSP00000394586.1:n.*468A>G
ENST00000617799.1:c.737A>G	ENSP00000483040.1:p.Asp246Gly
NM_016038.2:c.737A>G , LRG_104t1:c.737A>G	NP_057122.2:p.Asp246Gly
NM_016038.3:c.737A>G	NP_057122.2:p.Asp246Gly
NM_016038.4:c.737A>G MANE Select	NP_057122.2:p.Asp246Gly