Canonical Allele Identifier: CA408634563
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2697048
ClinVar RCV Id: RCV003533933

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443532C>T , CM000682.2:g.33443532C>T GRCh38
NC_000020.10:g.32031338C>T , CM000682.1:g.32031338C>T GRCh37
NC_000020.9:g.31494999C>T NCBI36
NG_011622.1:g.5361G>A , LRG_332:g.5361G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.89G>A MANE Select ENSP00000217381.2:p.Arg30Gln
ENST00000217381.2:c.89G>A ENSP00000217381.2:p.Arg30Gln
NM_003098.2:c.89G>A , LRG_332t1:c.89G>A NP_003089.1:p.Arg30Gln
XM_005260517.1:c.89G>A XP_005260574.1:p.Arg30Gln
XM_011529007.1:c.89G>A XP_011527309.1:p.Arg30Gln
XM_011529008.1:c.89G>A XP_011527310.1:p.Arg30Gln
XR_936612.1:n.322G>A
NM_003098.3:c.89G>A MANE Select NP_003089.1:p.Arg30Gln