Canonical Allele Identifier: CA313275623
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 518790
ClinVar RCV Id: RCV000619650
dbSNP Id: rs949573711
gnomAD v2: 20-32026690-C-T
gnomAD v3: 20-33438884-C-T
gnomAD v4: 20-33438884-C-T
MyVariant Identifiers: chr20:g.32026690C>T (hg19) chr20:g.33438884C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33438884C>T , CM000682.2:g.33438884C>T GRCh38
NC_000020.10:g.32026690C>T , CM000682.1:g.32026690C>T GRCh37
NC_000020.9:g.31490351C>T NCBI36
NG_011622.1:g.10009G>A , LRG_332:g.10009G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.453G>A MANE Select ENSP00000217381.2:p.Ala151=
ENST00000217381.2:c.453G>A ENSP00000217381.2:p.Ala151=
NM_003098.2:c.453G>A , LRG_332t1:c.453G>A NP_003089.1:p.Ala151=
XM_005260517.1:c.453G>A XP_005260574.1:p.Ala151=
XM_011529007.1:c.453G>A XP_011527309.1:p.Ala151=
XM_011529008.1:c.453G>A XP_011527310.1:p.Ala151=
XR_936612.1:n.686G>A
XM_024451971.1:c.126G>A XP_024307739.1:p.Ala42=
NM_003098.3:c.453G>A MANE Select NP_003089.1:p.Ala151=
Search 100 bp 5'
Search 100 bp 3'