Canonical Allele Identifier: CA10653080

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 338214
• ClinVar RCV Id: RCV000282270 ; RCV000374416
• dbSNP Id: rs750278583
• gnomAD v2: 20-31997997-C-T
• gnomAD v3: 20-33410191-C-T
• gnomAD v4: 20-33410191-C-T
• COSMIC: COSM4728765
• MyVariant Identifiers: chr20:g.31997997C>T (hg19) ; chr20:g.33410191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33410191C>T , CM000682.2:g.33410191C>T	GRCh38
NC_000020.10:g.31997997C>T , CM000682.1:g.31997997C>T	GRCh37
NC_000020.9:g.31461658C>T	NCBI36
NG_011622.1:g.38702G>A , LRG_332:g.38702G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000217381.3:c.1181G>A MANE Select	ENSP00000217381.2:p.Arg394His
ENST00000217381.2:c.1181G>A	ENSP00000217381.2:p.Arg394His
NM_003098.2:c.1181G>A , LRG_332t1:c.1181G>A	NP_003089.1:p.Arg394His
XM_005260517.1:c.1181G>A	XP_005260574.1:p.Arg394His
XM_011529007.1:c.1181G>A	XP_011527309.1:p.Arg394His
XM_011529008.1:c.1181G>A	XP_011527310.1:p.Arg394His
XR_936612.1:n.1274-1303G>A
XM_024451971.1:c.854G>A	XP_024307739.1:p.Arg285His
NM_003098.3:c.1181G>A MANE Select	NP_003089.1:p.Arg394His