Canonical Allele Identifier: CA389255565
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24725197C>T (hg19) chr14:g.24255991C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255991C>T , CM000676.2:g.24255991C>T GRCh38
NC_000014.8:g.24725197C>T , CM000676.1:g.24725197C>T GRCh37
NC_000014.7:g.23795037C>T NCBI36
NG_007150.1:g.12176G>A
NG_007150.2:g.12176G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1489G>A MANE Select ENSP00000206765.6:p.Glu497Lys
ENST00000206765.10:c.1489G>A ENSP00000206765.6:p.Glu497Lys
ENST00000544573.5:c.163G>A ENSP00000439446.1:p.Glu55Lys
ENST00000559136.1:c.562G>A ENSP00000453337.1:p.Glu188Lys
NM_000359.2:c.1489G>A NP_000350.1:p.Glu497Lys
NM_000359.3:c.1489G>A MANE Select NP_000350.1:p.Glu497Lys
Search 100 bp 5'
Search 100 bp 3'