Canonical Allele Identifier: CA302339
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 190938
ClinVar RCV Id: RCV000171121 RCV001340450 RCV003165351 RCV002485084
dbSNP Id: rs756587722
ExAC: 20:32026740 T / G
gnomAD v2: 20-32026740-T-G
gnomAD v4: 20-33438934-T-G
MyVariant Identifiers: chr20:g.32026740T>G (hg19) chr20:g.33438934T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33438934T>G , CM000682.2:g.33438934T>G GRCh38
NC_000020.10:g.32026740T>G , CM000682.1:g.32026740T>G GRCh37
NC_000020.9:g.31490401T>G NCBI36
NG_011622.1:g.9959A>C , LRG_332:g.9959A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.403A>C MANE Select ENSP00000217381.2:p.Ile135Leu
ENST00000217381.2:c.403A>C ENSP00000217381.2:p.Ile135Leu
NM_003098.2:c.403A>C , LRG_332t1:c.403A>C NP_003089.1:p.Ile135Leu
XM_005260517.1:c.403A>C XP_005260574.1:p.Ile135Leu
XM_011529007.1:c.403A>C XP_011527309.1:p.Ile135Leu
XM_011529008.1:c.403A>C XP_011527310.1:p.Ile135Leu
XR_936612.1:n.636A>C
XM_024451971.1:c.76A>C XP_024307739.1:p.Ile26Leu
NM_003098.3:c.403A>C MANE Select NP_003089.1:p.Ile135Leu
Search 100 bp 5'
Search 100 bp 3'