Canonical Allele Identifier: CA302267
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 190912
ClinVar RCV Id: RCV001852057 RCV002390407 RCV002485080 RCV003387785
dbSNP Id: rs759487225
ExAC: 20:32000531 A / T
gnomAD v2: 20-32000531-A-T
gnomAD v3: 20-33412725-A-T
gnomAD v4: 20-33412725-A-T
MyVariant Identifiers: chr20:g.32000531A>T (hg19) chr20:g.33412725A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33412725A>T , CM000682.2:g.33412725A>T GRCh38
NC_000020.10:g.32000531A>T , CM000682.1:g.32000531A>T GRCh37
NC_000020.9:g.31464192A>T NCBI36
NG_011622.1:g.36168T>A , LRG_332:g.36168T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000217381.3:c.759T>A MANE Select ENSP00000217381.2:p.Asp253Glu
ENST00000217381.2:c.759T>A ENSP00000217381.2:p.Asp253Glu
NM_003098.2:c.759T>A , LRG_332t1:c.759T>A NP_003089.1:p.Asp253Glu
XM_005260517.1:c.759T>A XP_005260574.1:p.Asp253Glu
XM_011529007.1:c.759T>A XP_011527309.1:p.Asp253Glu
XM_011529008.1:c.759T>A XP_011527310.1:p.Asp253Glu
XR_936612.1:n.992T>A
XM_024451971.1:c.432T>A XP_024307739.1:p.Asp144Glu
NM_003098.3:c.759T>A MANE Select NP_003089.1:p.Asp253Glu
Search 100 bp 5'
Search 100 bp 3'