Canonical Allele Identifier: CA455779784

Gene: SBDS

Linked Data

• dbSNP Id: rs780669619
• gnomAD v2: 7-66453469-C-T
• gnomAD v3: 7-66988482-C-T
• gnomAD v4: 7-66988482-C-T
• MyVariant Identifiers: chr7:g.66453469C>T (hg19) ; chr7:g.66988482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66988482C>T , CM000669.2:g.66988482C>T	GRCh38
NC_000007.13:g.66453469C>T , CM000669.1:g.66453469C>T	GRCh37
NC_000007.12:g.66090904C>T	NCBI36
NG_007277.1:g.12120G>A , LRG_104:g.12120G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000414306.6:c.*373G>A	ENSP00000394586.1:n.*373G>A
ENST00000697860.1:n.609G>A
ENST00000697861.1:c.441G>A	ENSP00000513460.1:p.Pro147=
ENST00000697862.1:c.*83G>A	ENSP00000513461.1:n.*83G>A
ENST00000697863.1:c.585G>A	ENSP00000513462.1:p.Pro195=
ENST00000697864.1:n.1786G>A
ENST00000697865.1:c.585G>A	ENSP00000513463.1:p.Pro195=
ENST00000697866.1:c.324G>A	ENSP00000513464.1:p.Pro108=
ENST00000697867.1:c.620G>A
ENST00000697868.1:c.*406G>A	ENSP00000513466.1:n.*406G>A
ENST00000697897.1:c.642G>A	ENSP00000513469.1:p.Pro214=
ENST00000246868.7:c.642G>A MANE Select	ENSP00000246868.2:p.Pro214=
ENST00000246868.6:c.642G>A	ENSP00000246868.2:p.Pro214=
ENST00000414306.5:c.*373G>A	ENSP00000394586.1:n.*373G>A
ENST00000617799.1:c.642G>A	ENSP00000483040.1:p.Pro214=
NM_016038.2:c.642G>A , LRG_104t1:c.642G>A	NP_057122.2:p.Pro214=
NM_016038.3:c.642G>A	NP_057122.2:p.Pro214=
NM_016038.4:c.642G>A MANE Select	NP_057122.2:p.Pro214=