Canonical Allele Identifier: CA9731179
Gene: TGM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 374840
ClinVar RCV Id: RCV000415528
dbSNP Id: rs779702016
ExAC: 20:2312665 C / T
gnomAD v2: 20-2312665-C-T
gnomAD v4: 20-2332019-C-T
COSMIC: COSM4097131
MyVariant Identifiers: chr20:g.2312665C>T (hg19) chr20:g.2332019C>T (hg38)
PubMed: PMID:24183230 PMID:27866708
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2332019C>T , CM000682.2:g.2332019C>T GRCh38
NC_000020.10:g.2312665C>T , CM000682.1:g.2312665C>T GRCh37
NC_000020.9:g.2260665C>T NCBI36
NG_052959.1:g.41053C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381458.6:c.1351C>T MANE Select ENSP00000370867.5:p.Gln451Ter
ENST00000651531.1:c.1408C>T ENSP00000498584.1:p.Gln470Ter
ENST00000381458.5:c.1351C>T ENSP00000370867.5:p.Gln451Ter
NM_003245.3:c.1351C>T NP_003236.3:p.Gln451Ter
NM_003245.4:c.1351C>T MANE Select NP_003236.3:p.Gln451Ter
Search 100 bp 5'
Search 100 bp 3'