Canonical Allele Identifier: CA346671

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 180529
• ClinVar RCV Id: RCV000157506 ; RCV001058598 ; RCV002408707
• dbSNP Id: rs137986136
• ExAC: 20:32000469 C / T
• gnomAD v2: 20-32000469-C-T
• gnomAD v3: 20-33412663-C-T
• gnomAD v4: 20-33412663-C-T
• MyVariant Identifiers: chr20:g.32000469C>T (hg19) ; chr20:g.33412663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33412663C>T , CM000682.2:g.33412663C>T	GRCh38
NC_000020.10:g.32000469C>T , CM000682.1:g.32000469C>T	GRCh37
NC_000020.9:g.31464130C>T	NCBI36
NG_011622.1:g.36230G>A , LRG_332:g.36230G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.821G>A MANE Select	ENSP00000217381.2:p.Arg274Gln
ENST00000217381.2:c.821G>A	ENSP00000217381.2:p.Arg274Gln
NM_003098.2:c.821G>A , LRG_332t1:c.821G>A	NP_003089.1:p.Arg274Gln
XM_005260517.1:c.821G>A	XP_005260574.1:p.Arg274Gln
XM_011529007.1:c.821G>A	XP_011527309.1:p.Arg274Gln
XM_011529008.1:c.821G>A	XP_011527310.1:p.Arg274Gln
XR_936612.1:n.1054G>A
XM_024451971.1:c.494G>A	XP_024307739.1:p.Arg165Gln
NM_003098.3:c.821G>A MANE Select	NP_003089.1:p.Arg274Gln