Canonical Allele Identifier: CA236849
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191512
ClinVar RCV Id: RCV000171711 RCV000522990 RCV001059988
dbSNP Id: rs201421292
ExAC: 20:32026768 C / G
gnomAD v2: 20-32026768-C-G
gnomAD v3: 20-33438962-C-G
gnomAD v4: 20-33438962-C-G
MyVariant Identifiers: chr20:g.32026768C>G (hg19) chr20:g.33438962C>G (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33438962C>G , CM000682.2:g.33438962C>G GRCh38
NC_000020.10:g.32026768C>G , CM000682.1:g.32026768C>G GRCh37
NC_000020.9:g.31490429C>G NCBI36
NG_011622.1:g.9931G>C , LRG_332:g.9931G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.375G>C MANE Select ENSP00000217381.2:p.Gln125His
ENST00000217381.2:c.375G>C ENSP00000217381.2:p.Gln125His
NM_003098.2:c.375G>C , LRG_332t1:c.375G>C NP_003089.1:p.Gln125His
XM_005260517.1:c.375G>C XP_005260574.1:p.Gln125His
XM_011529007.1:c.375G>C XP_011527309.1:p.Gln125His
XM_011529008.1:c.375G>C XP_011527310.1:p.Gln125His
XR_936612.1:n.608G>C
XM_024451971.1:c.48G>C XP_024307739.1:p.Gln16His
NM_003098.3:c.375G>C MANE Select NP_003089.1:p.Gln125His
Search 100 bp 5'
Search 100 bp 3'