Canonical Allele Identifier: CA116053

Gene: SBDS

Linked Data

• ClinVar Variation Id: 3196
• ClinVar RCV Id: RCV000003348 ; RCV000003347 ; RCV000255013 ; RCV000506317 ; RCV000623539 ; RCV000626935 ; RCV000763594 ; RCV001270036 ; RCV002272008 ; RCV003407264
• dbSNP Id: rs113993993
• ExAC: 7:66459197 A / G
• gnomAD v2: 7-66459197-A-G
• gnomAD v3: 7-66994210-A-G
• gnomAD v4: 7-66994210-A-G
• MyVariant Identifiers: chr7:g.66459197A>G (hg19) ; chr7:g.66994210A>G (hg38)
• PubMed: PMID:10393609 ; PMID:10556188 ; PMID:11553003 ; PMID:12496757 ; PMID:14749921 ; PMID:14984468 ; PMID:15284109 ; PMID:15769891 ; PMID:15860664 ; PMID:15942154 ; PMID:16047374 ; PMID:16867904 ; PMID:17478638 ; PMID:19148133 ; PMID:20301722 ; PMID:21536732 ; PMID:21695142 ; PMID:22191555 ; PMID:22934832 ; PMID:22935661 ; PMID:23351992 ; PMID:24388329 ; PMID:24629175 ; PMID:25525159 ; PMID:26822237 ; PMID:28263302

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66994210A>G , CM000669.2:g.66994210A>G	GRCh38
NC_000007.13:g.66459197A>G , CM000669.1:g.66459197A>G	GRCh37
NC_000007.12:g.66096632A>G	NCBI36
NG_007277.1:g.6392T>C , LRG_104:g.6392T>C
NG_033069.1:g.2406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414306.6:c.250+10T>C	ENSP00000394586.1:n.250+10T>C
ENST00000697860.1:n.225+2T>C
ENST00000697861.1:c.258+2T>C	ENSP00000513460.1:n.258+2T>C
ENST00000697862.1:c.258+2T>C	ENSP00000513461.1:n.258+2T>C
ENST00000697863.1:c.201+2T>C	ENSP00000513462.1:n.201+2T>C
ENST00000697864.1:n.1402+2T>C
ENST00000697865.1:c.201+2T>C	ENSP00000513463.1:n.201+2T>C
ENST00000697866.1:c.-61+2T>C	ENSP00000513464.1:n.-61+2T>C
ENST00000697867.1:c.98+2T>C
ENST00000697868.1:c.*22+2T>C	ENSP00000513466.1:n.*22+2T>C
ENST00000697869.1:c.194+2T>C	ENSP00000513467.1:n.194+2T>C
ENST00000697897.1:c.258+2T>C	ENSP00000513469.1:n.258+2T>C
ENST00000246868.7:c.258+2T>C MANE Select	ENSP00000246868.2:n.258+2T>C
ENST00000246868.6:c.258+2T>C	ENSP00000246868.2:n.258+2T>C
ENST00000414306.5:c.250+10T>C	ENSP00000394586.1:n.250+10T>C
ENST00000463579.1:n.147+10T>C
ENST00000490953.5:n.399+10T>C
ENST00000617799.1:c.258+2T>C	ENSP00000483040.1:n.258+2T>C
NM_016038.2:c.258+2T>C , LRG_104t1:c.258+2T>C	NP_057122.2:n.258+2T>C
NM_016038.3:c.258+2T>C	NP_057122.2:n.258+2T>C
NM_016038.4:c.258+2T>C MANE Select	NP_057122.2:n.258+2T>C