Canonical Allele Identifier: CA4279091

Gene: SBDS

Linked Data

• dbSNP Id: rs754935115
• ExAC: 7:66453338 G / T
• gnomAD v2: 7-66453338-G-T
• gnomAD v4: 7-66988351-G-T
• MyVariant Identifiers: chr7:g.66453338G>T (hg19) ; chr7:g.66988351G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988351G>T , CM000669.2:g.66988351G>T	GRCh38
NC_000007.13:g.66453338G>T , CM000669.1:g.66453338G>T	GRCh37
NC_000007.12:g.66090773G>T	NCBI36
NG_007277.1:g.12251C>A , LRG_104:g.12251C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.*504C>A	ENSP00000394586.1:n.*504C>A
ENST00000697860.1:n.740C>A
ENST00000697861.1:c.*20C>A	ENSP00000513460.1:n.*20C>A
ENST00000697862.1:c.*214C>A	ENSP00000513461.1:n.*214C>A
ENST00000697863.1:c.*20C>A	ENSP00000513462.1:n.*20C>A
ENST00000697864.1:n.1917C>A
ENST00000697865.1:c.*20C>A	ENSP00000513463.1:n.*20C>A
ENST00000697866.1:c.*20C>A	ENSP00000513464.1:n.*20C>A
ENST00000697867.1:c.751C>A
ENST00000697868.1:c.*537C>A	ENSP00000513466.1:n.*537C>A
ENST00000697897.1:c.*20C>A	ENSP00000513469.1:n.*20C>A
ENST00000246868.7:c.*20C>A MANE Select	ENSP00000246868.2:n.*20C>A
ENST00000246868.6:c.*20C>A	ENSP00000246868.2:n.*20C>A
ENST00000414306.5:c.*504C>A	ENSP00000394586.1:n.*504C>A
ENST00000617799.1:c.*20C>A	ENSP00000483040.1:n.*20C>A
NM_016038.2:c.*20C>A , LRG_104t1:c.*20C>A	NP_057122.2:n.*20C>A
NM_016038.3:c.*20C>A	NP_057122.2:n.*20C>A
NM_016038.4:c.*20C>A MANE Select	NP_057122.2:n.*20C>A