Canonical Allele Identifier: CA4279131

Gene: SBDS

Linked Data

• dbSNP Id: rs750502064
• ExAC: 7:66456150 C / G
• gnomAD v2: 7-66456150-C-G
• gnomAD v4: 7-66991163-C-G
• MyVariant Identifiers: chr7:g.66456150C>G (hg19) ; chr7:g.66991163C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66991163C>G , CM000669.2:g.66991163C>G	GRCh38
NC_000007.13:g.66456150C>G , CM000669.1:g.66456150C>G	GRCh37
NC_000007.12:g.66093585C>G	NCBI36
NG_007277.1:g.9439G>C , LRG_104:g.9439G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*329G>C	ENSP00000394586.1:n.*329G>C
ENST00000697860.1:n.565G>C
ENST00000697861.1:c.397G>C	ENSP00000513460.1:p.Glu133Gln
ENST00000697862.1:c.*39G>C	ENSP00000513461.1:n.*39G>C
ENST00000697863.1:c.541G>C	ENSP00000513462.1:p.Glu181Gln
ENST00000697864.1:n.1742G>C
ENST00000697865.1:c.541G>C	ENSP00000513463.1:p.Glu181Gln
ENST00000697866.1:c.280G>C	ENSP00000513464.1:p.Glu94Gln
ENST00000697867.1:c.438G>C
ENST00000697868.1:c.*362G>C	ENSP00000513466.1:n.*362G>C
ENST00000697897.1:c.598G>C	ENSP00000513469.1:p.Glu200Gln
ENST00000246868.7:c.598G>C MANE Select	ENSP00000246868.2:p.Glu200Gln
ENST00000246868.6:c.598G>C	ENSP00000246868.2:p.Glu200Gln
ENST00000414306.5:c.*329G>C	ENSP00000394586.1:n.*329G>C
ENST00000463579.1:n.487G>C
ENST00000490953.5:n.739G>C
ENST00000617799.1:c.598G>C	ENSP00000483040.1:p.Glu200Gln
NM_016038.2:c.598G>C , LRG_104t1:c.598G>C	NP_057122.2:p.Glu200Gln
NM_016038.3:c.598G>C	NP_057122.2:p.Glu200Gln
NM_016038.4:c.598G>C MANE Select	NP_057122.2:p.Glu200Gln