Canonical Allele Identifier: CA389264798
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24259174-C-T
MyVariant Identifiers: chr14:g.24728380C>T (hg19) chr14:g.24259174C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259174C>T , CM000676.2:g.24259174C>T GRCh38
NC_000014.8:g.24728380C>T , CM000676.1:g.24728380C>T GRCh37
NC_000014.7:g.23798220C>T NCBI36
NG_007150.1:g.8993G>A
NG_007150.2:g.8993G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1060G>A MANE Select ENSP00000206765.6:p.Ala354Thr
ENST00000206765.10:c.1060G>A ENSP00000206765.6:p.Ala354Thr
ENST00000544573.5:c.-28-786G>A ENSP00000439446.1:n.-28-786G>A
ENST00000559136.1:c.133G>A ENSP00000453337.1:p.Ala45Thr
NM_000359.2:c.1060G>A NP_000350.1:p.Ala354Thr
NM_000359.3:c.1060G>A MANE Select NP_000350.1:p.Ala354Thr
Search 100 bp 5'
Search 100 bp 3'