Canonical Allele Identifier: CA9816981

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 1061671
• ClinVar RCV Id: RCV001371295 ; RCV002384537
• dbSNP Id: rs746800138
• ExAC: 20:31996607 C / T
• gnomAD v2: 20-31996607-C-T
• gnomAD v3: 20-33408801-C-T
• gnomAD v4: 20-33408801-C-T
• COSMIC: COSM5449413
• MyVariant Identifiers: chr20:g.31996607C>T (hg19) ; chr20:g.33408801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33408801C>T , CM000682.2:g.33408801C>T	GRCh38
NC_000020.10:g.31996607C>T , CM000682.1:g.31996607C>T	GRCh37
NC_000020.9:g.31460268C>T	NCBI36
NG_011622.1:g.40092G>A , LRG_332:g.40092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.1325G>A MANE Select	ENSP00000217381.2:p.Arg442Gln
ENST00000217381.2:c.1325G>A	ENSP00000217381.2:p.Arg442Gln
NM_003098.2:c.1325G>A , LRG_332t1:c.1325G>A	NP_003089.1:p.Arg442Gln
XM_005260517.1:c.1325G>A	XP_005260574.1:p.Arg442Gln
XM_011529007.1:c.1357G>A	XP_011527309.1:p.Glu453Lys
XM_011529008.1:c.1357G>A	XP_011527310.1:p.Glu453Lys
XR_936612.1:n.1361G>A
XM_024451971.1:c.998G>A	XP_024307739.1:p.Arg333Gln
NM_003098.3:c.1325G>A MANE Select	NP_003089.1:p.Arg442Gln