Canonical Allele Identifier: CA7131235
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372534
ClinVar RCV Id: RCV000413014 RCV000599792 RCV000762928
dbSNP Id: rs121918731
ExAC: 14:24728975 G / C
gnomAD v2: 14-24728975-G-C
gnomAD v3: 14-24259769-G-C
gnomAD v4: 14-24259769-G-C
MyVariant Identifiers: chr14:g.24728975G>C (hg19) chr14:g.24259769G>C (hg38)
PubMed: PMID:16968736 PMID:19212342 PMID:19863506 PMID:19890349 PMID:27025581
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259769G>C , CM000676.2:g.24259769G>C GRCh38
NC_000014.8:g.24728975G>C , CM000676.1:g.24728975G>C GRCh37
NC_000014.7:g.23798815G>C NCBI36
NG_007150.1:g.8398C>G
NG_007150.2:g.8398C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.919C>G MANE Select ENSP00000206765.6:p.Arg307Gly
ENST00000206765.10:c.919C>G ENSP00000206765.6:p.Arg307Gly
ENST00000544573.5:c.-28-1381C>G ENSP00000439446.1:n.-28-1381C>G
ENST00000559136.1:c.-9C>G ENSP00000453337.1:n.-9C>G
NM_000359.2:c.919C>G NP_000350.1:p.Arg307Gly
NM_000359.3:c.919C>G MANE Select NP_000350.1:p.Arg307Gly
Search 100 bp 5'
Search 100 bp 3'