Canonical Allele Identifier: CA236846
Gene: SNTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191511
ClinVar RCV Id: RCV000171710
dbSNP Id: rs200241523
gnomAD v4: 20-33438877-C-T
MyVariant Identifiers: chr20:g.32026683C>T (hg19) chr20:g.33438877C>T (hg38)
PubMed: PMID:23861362
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33438877C>T , CM000682.2:g.33438877C>T GRCh38
NC_000020.10:g.32026683C>T , CM000682.1:g.32026683C>T GRCh37
NC_000020.9:g.31490344C>T NCBI36
NG_011622.1:g.10016G>A , LRG_332:g.10016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.460G>A MANE Select ENSP00000217381.2:p.Val154Ile
ENST00000217381.2:c.460G>A ENSP00000217381.2:p.Val154Ile
NM_003098.2:c.460G>A , LRG_332t1:c.460G>A NP_003089.1:p.Val154Ile
XM_005260517.1:c.460G>A XP_005260574.1:p.Val154Ile
XM_011529007.1:c.460G>A XP_011527309.1:p.Val154Ile
XM_011529008.1:c.460G>A XP_011527310.1:p.Val154Ile
XR_936612.1:n.693G>A
XM_024451971.1:c.133G>A XP_024307739.1:p.Val45Ile
NM_003098.3:c.460G>A MANE Select NP_003089.1:p.Val154Ile
Search 100 bp 5'
Search 100 bp 3'