Canonical Allele Identifier: CA389266902
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2299567
ClinVar RCV Id: RCV002868997
gnomAD v4: 14-24259228-C-T
MyVariant Identifiers: chr14:g.24728434C>T (hg19) chr14:g.24259228C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259228C>T , CM000676.2:g.24259228C>T GRCh38
NC_000014.8:g.24728434C>T , CM000676.1:g.24728434C>T GRCh37
NC_000014.7:g.23798274C>T NCBI36
NG_007150.1:g.8939G>A
NG_007150.2:g.8939G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1006G>A MANE Select ENSP00000206765.6:p.Gly336Arg
ENST00000206765.10:c.1006G>A ENSP00000206765.6:p.Gly336Arg
ENST00000544573.5:c.-28-840G>A ENSP00000439446.1:n.-28-840G>A
ENST00000559136.1:c.79G>A ENSP00000453337.1:p.Gly27Arg
NM_000359.2:c.1006G>A NP_000350.1:p.Gly336Arg
NM_000359.3:c.1006G>A MANE Select NP_000350.1:p.Gly336Arg
Search 100 bp 5'
Search 100 bp 3'