Canonical Allele Identifier: CA510470693
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1215994
ClinVar RCV Id: RCV001593657
dbSNP Id: rs2146815261
MyVariant Identifiers: chr20:g.32031373C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443567C>T , CM000682.2:g.33443567C>T GRCh38
NC_000020.10:g.32031373C>T , CM000682.1:g.32031373C>T GRCh37
NC_000020.9:g.31495034C>T NCBI36
NG_011622.1:g.5326G>A , LRG_332:g.5326G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.54G>A MANE Select ENSP00000217381.2:p.Gly18=
ENST00000217381.2:c.54G>A ENSP00000217381.2:p.Gly18=
NM_003098.2:c.54G>A , LRG_332t1:c.54G>A NP_003089.1:p.Gly18=
XM_005260517.1:c.54G>A XP_005260574.1:p.Gly18=
XM_011529007.1:c.54G>A XP_011527309.1:p.Gly18=
XM_011529008.1:c.54G>A XP_011527310.1:p.Gly18=
XR_936612.1:n.287G>A
NM_003098.3:c.54G>A MANE Select NP_003089.1:p.Gly18=