Canonical Allele Identifier: CA367645906

Gene: SBDS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*329G>A	ENSP00000394586.1:n.*329G>A
ENST00000697860.1:n.565G>A
ENST00000697861.1:c.397G>A	ENSP00000513460.1:p.Glu133Lys
ENST00000697862.1:c.*39G>A	ENSP00000513461.1:n.*39G>A
ENST00000697863.1:c.541G>A	ENSP00000513462.1:p.Glu181Lys
ENST00000697864.1:n.1742G>A
ENST00000697865.1:c.541G>A	ENSP00000513463.1:p.Glu181Lys
ENST00000697866.1:c.280G>A	ENSP00000513464.1:p.Glu94Lys
ENST00000697867.1:c.438G>A
ENST00000697868.1:c.*362G>A	ENSP00000513466.1:n.*362G>A
ENST00000697897.1:c.598G>A	ENSP00000513469.1:p.Glu200Lys
ENST00000246868.7:c.598G>A MANE Select	ENSP00000246868.2:p.Glu200Lys
ENST00000246868.6:c.598G>A	ENSP00000246868.2:p.Glu200Lys
ENST00000414306.5:c.*329G>A	ENSP00000394586.1:n.*329G>A
ENST00000463579.1:n.487G>A
ENST00000490953.5:n.739G>A
ENST00000617799.1:c.598G>A	ENSP00000483040.1:p.Glu200Lys
NM_016038.2:c.598G>A , LRG_104t1:c.598G>A	NP_057122.2:p.Glu200Lys
NM_016038.3:c.598G>A	NP_057122.2:p.Glu200Lys
NM_016038.4:c.598G>A MANE Select	NP_057122.2:p.Glu200Lys