Canonical Allele Identifier: CA9817231
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1502599
ClinVar RCV Id: RCV002022416 RCV002331605 RCV002486639
dbSNP Id: rs768194552
ExAC: 20:32026724 C / G
gnomAD v2: 20-32026724-C-G
gnomAD v3: 20-33438918-C-G
gnomAD v4: 20-33438918-C-G
MyVariant Identifiers: chr20:g.32026724C>G (hg19) chr20:g.33438918C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33438918C>G , CM000682.2:g.33438918C>G GRCh38
NC_000020.10:g.32026724C>G , CM000682.1:g.32026724C>G GRCh37
NC_000020.9:g.31490385C>G NCBI36
NG_011622.1:g.9975G>C , LRG_332:g.9975G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.419G>C MANE Select ENSP00000217381.2:p.Gly140Ala
ENST00000217381.2:c.419G>C ENSP00000217381.2:p.Gly140Ala
NM_003098.2:c.419G>C , LRG_332t1:c.419G>C NP_003089.1:p.Gly140Ala
XM_005260517.1:c.419G>C XP_005260574.1:p.Gly140Ala
XM_011529007.1:c.419G>C XP_011527309.1:p.Gly140Ala
XM_011529008.1:c.419G>C XP_011527310.1:p.Gly140Ala
XR_936612.1:n.652G>C
XM_024451971.1:c.92G>C XP_024307739.1:p.Gly31Ala
NM_003098.3:c.419G>C MANE Select NP_003089.1:p.Gly140Ala
Search 100 bp 5'
Search 100 bp 3'