Canonical Allele Identifier: CA389276946
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1725963
ClinVar RCV Id: RCV002306934
MyVariant Identifiers: chr14:g.24730913C>A (hg19) chr14:g.24261707C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261707C>A , CM000676.2:g.24261707C>A GRCh38
NC_000014.8:g.24730913C>A , CM000676.1:g.24730913C>A GRCh37
NC_000014.7:g.23800753C>A NCBI36
NG_007150.1:g.6460G>T
NG_007150.2:g.6460G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.496G>T MANE Select ENSP00000206765.6:p.Glu166Ter
ENST00000206765.10:c.496G>T ENSP00000206765.6:p.Glu166Ter
ENST00000544573.5:c.-29+420G>T ENSP00000439446.1:n.-29+420G>T
NM_000359.2:c.496G>T NP_000350.1:p.Glu166Ter
NM_000359.3:c.496G>T MANE Select NP_000350.1:p.Glu166Ter
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Search 100 bp 3'