Canonical Allele Identifier: CA302288
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 190920
ClinVar RCV Id: RCV000171103 RCV000470910 RCV002390408 RCV002485081
dbSNP Id: rs533902889
ExAC: 20:31996688 G / A
gnomAD v2: 20-31996688-G-A
gnomAD v4: 20-33408882-G-A
COSMIC: COSM4728764
MyVariant Identifiers: chr20:g.31996688G>A (hg19) chr20:g.33408882G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33408882G>A , CM000682.2:g.33408882G>A GRCh38
NC_000020.10:g.31996688G>A , CM000682.1:g.31996688G>A GRCh37
NC_000020.9:g.31460349G>A NCBI36
NG_011622.1:g.40011C>T , LRG_332:g.40011C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.1244C>T MANE Select ENSP00000217381.2:p.Thr415Met
ENST00000217381.2:c.1244C>T ENSP00000217381.2:p.Thr415Met
NM_003098.2:c.1244C>T , LRG_332t1:c.1244C>T NP_003089.1:p.Thr415Met
XM_005260517.1:c.1244C>T XP_005260574.1:p.Thr415Met
XM_011529007.1:c.1276C>T XP_011527309.1:p.Arg426Cys
XM_011529008.1:c.1276C>T XP_011527310.1:p.Arg426Cys
XR_936612.1:n.1280C>T
XM_024451971.1:c.917C>T XP_024307739.1:p.Thr306Met
NM_003098.3:c.1244C>T MANE Select NP_003089.1:p.Thr415Met
Search 100 bp 5'
Search 100 bp 3'