Canonical Allele Identifier: CA389269378
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1806489
ClinVar RCV Id: RCV002472390
MyVariant Identifiers: chr14:g.24729148G>A (hg19) chr14:g.24259942G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259942G>A , CM000676.2:g.24259942G>A GRCh38
NC_000014.8:g.24729148G>A , CM000676.1:g.24729148G>A GRCh37
NC_000014.7:g.23798988G>A NCBI36
NG_007150.1:g.8225C>T
NG_007150.2:g.8225C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.874C>T MANE Select ENSP00000206765.6:p.Gln292Ter
ENST00000206765.10:c.874C>T ENSP00000206765.6:p.Gln292Ter
ENST00000544573.5:c.-28-1554C>T ENSP00000439446.1:n.-28-1554C>T
ENST00000559136.1:c.-54C>T ENSP00000453337.1:n.-54C>T
NM_000359.2:c.874C>T NP_000350.1:p.Gln292Ter
NM_000359.3:c.874C>T MANE Select NP_000350.1:p.Gln292Ter
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