Canonical Allele Identifier: CA9817024

Gene: SNTA1

Linked Data

• ClinVar Variation Id: 432866
• ClinVar RCV Id: RCV000497450 ; RCV000808870 ; RCV002496913 ; RCV003302735
• dbSNP Id: rs567451585
• ExAC: 20:31997998 G / A
• gnomAD v2: 20-31997998-G-A
• gnomAD v3: 20-33410192-G-A
• gnomAD v4: 20-33410192-G-A
• COSMIC: COSM5643774
• MyVariant Identifiers: chr20:g.31997998G>A (hg19) ; chr20:g.33410192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33410192G>A , CM000682.2:g.33410192G>A	GRCh38
NC_000020.10:g.31997998G>A , CM000682.1:g.31997998G>A	GRCh37
NC_000020.9:g.31461659G>A	NCBI36
NG_011622.1:g.38701C>T , LRG_332:g.38701C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217381.3:c.1180C>T MANE Select	ENSP00000217381.2:p.Arg394Cys
ENST00000217381.2:c.1180C>T	ENSP00000217381.2:p.Arg394Cys
NM_003098.2:c.1180C>T , LRG_332t1:c.1180C>T	NP_003089.1:p.Arg394Cys
XM_005260517.1:c.1180C>T	XP_005260574.1:p.Arg394Cys
XM_011529007.1:c.1180C>T	XP_011527309.1:p.Arg394Cys
XM_011529008.1:c.1180C>T	XP_011527310.1:p.Arg394Cys
XR_936612.1:n.1274-1304C>T
XM_024451971.1:c.853C>T	XP_024307739.1:p.Arg285Cys
NM_003098.3:c.1180C>T MANE Select	NP_003089.1:p.Arg394Cys