Canonical Allele Identifier: CA313275762
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2045987
ClinVar RCV Id: RCV002909054 RCV004066174
dbSNP Id: rs1009302553
gnomAD v2: 20-32026830-C-T
gnomAD v4: 20-33439024-C-T
MyVariant Identifiers: chr20:g.32026830C>T (hg19) chr20:g.33439024C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33439024C>T , CM000682.2:g.33439024C>T GRCh38
NC_000020.10:g.32026830C>T , CM000682.1:g.32026830C>T GRCh37
NC_000020.9:g.31490491C>T NCBI36
NG_011622.1:g.9869G>A , LRG_332:g.9869G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.313G>A MANE Select ENSP00000217381.2:p.Gly105Ser
ENST00000217381.2:c.313G>A ENSP00000217381.2:p.Gly105Ser
NM_003098.2:c.313G>A , LRG_332t1:c.313G>A NP_003089.1:p.Gly105Ser
XM_005260517.1:c.313G>A XP_005260574.1:p.Gly105Ser
XM_011529007.1:c.313G>A XP_011527309.1:p.Gly105Ser
XM_011529008.1:c.313G>A XP_011527310.1:p.Gly105Ser
XR_936612.1:n.546G>A
XM_024451971.1:c.-15G>A XP_024307739.1:n.-15G>A
NM_003098.3:c.313G>A MANE Select NP_003089.1:p.Gly105Ser
Search 100 bp 5'
Search 100 bp 3'