Canonical Allele Identifier: CA389255794
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24256005-G-T
MyVariant Identifiers: chr14:g.24725211G>T (hg19) chr14:g.24256005G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256005G>T , CM000676.2:g.24256005G>T GRCh38
NC_000014.8:g.24725211G>T , CM000676.1:g.24725211G>T GRCh37
NC_000014.7:g.23795051G>T NCBI36
NG_007150.1:g.12162C>A
NG_007150.2:g.12162C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1475C>A MANE Select ENSP00000206765.6:p.Pro492His
ENST00000206765.10:c.1475C>A ENSP00000206765.6:p.Pro492His
ENST00000544573.5:c.149C>A ENSP00000439446.1:p.Pro50His
ENST00000559136.1:c.548C>A ENSP00000453337.1:p.Pro183His
NM_000359.2:c.1475C>A NP_000350.1:p.Pro492His
NM_000359.3:c.1475C>A MANE Select NP_000350.1:p.Pro492His
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