Canonical Allele Identifier: CA256466
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12488
ClinVar RCV Id: RCV000013310 RCV001379756 RCV001582478 RCV003894800 RCV001813978
dbSNP Id: rs121918722
gnomAD v4: 14-24259087-C-T
MyVariant Identifiers: chr14:g.24728293C>T (hg19) chr14:g.24259087C>T (hg38)
PubMed: PMID:9359043
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259087C>T , CM000676.2:g.24259087C>T GRCh38
NC_000014.8:g.24728293C>T , CM000676.1:g.24728293C>T GRCh37
NC_000014.7:g.23798133C>T NCBI36
NG_007150.1:g.9080G>A
NG_007150.2:g.9080G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1147G>A MANE Select ENSP00000206765.6:p.Val383Met
ENST00000206765.10:c.1147G>A ENSP00000206765.6:p.Val383Met
ENST00000544573.5:c.-28-699G>A ENSP00000439446.1:n.-28-699G>A
ENST00000559136.1:c.220G>A ENSP00000453337.1:p.Val74Met
NM_000359.2:c.1147G>A NP_000350.1:p.Val383Met
NM_000359.3:c.1147G>A MANE Select NP_000350.1:p.Val383Met
Search 100 bp 5'
Search 100 bp 3'