Canonical Allele Identifier: CA235716

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 180528
• ClinVar RCV Id: RCV000157505 ; RCV000171082 ; RCV000225771 ; RCV000618960 ; RCV003224177
• dbSNP Id: rs200316080
• ExAC: 20:32000506 T / G
• gnomAD v2: 20-32000506-T-G
• gnomAD v3: 20-33412700-T-G
• gnomAD v4: 20-33412700-T-G
• MyVariant Identifiers: chr20:g.32000506T>G (hg19) ; chr20:g.33412700T>G (hg38)
• PubMed: PMID:20009079 ; PMID:23465283 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33412700T>G , CM000682.2:g.33412700T>G	GRCh38
NC_000020.10:g.32000506T>G , CM000682.1:g.32000506T>G	GRCh37
NC_000020.9:g.31464167T>G	NCBI36
NG_011622.1:g.36193A>C , LRG_332:g.36193A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.784A>C MANE Select	ENSP00000217381.2:p.Thr262Pro
ENST00000217381.2:c.784A>C	ENSP00000217381.2:p.Thr262Pro
NM_003098.2:c.784A>C , LRG_332t1:c.784A>C	NP_003089.1:p.Thr262Pro
XM_005260517.1:c.784A>C	XP_005260574.1:p.Thr262Pro
XM_011529007.1:c.784A>C	XP_011527309.1:p.Thr262Pro
XM_011529008.1:c.784A>C	XP_011527310.1:p.Thr262Pro
XR_936612.1:n.1017A>C
XM_024451971.1:c.457A>C	XP_024307739.1:p.Thr153Pro
NM_003098.3:c.784A>C MANE Select	NP_003089.1:p.Thr262Pro