Canonical Allele Identifier: CA2123832343
Gene: TGM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255989C= , CM000676.2:g.24255989C= GRCh38
NC_000014.8:g.24725195C= , CM000676.1:g.24725195C= GRCh37
NC_000014.7:g.23795035C= NCBI36
NG_007150.1:g.12178G=
NG_007150.2:g.12178G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1491G= MANE Select ENSP00000206765.6:p.Glu497=
ENST00000206765.10:c.1491G= ENSP00000206765.6:p.Glu497=
ENST00000544573.5:c.165G= ENSP00000439446.1:p.Glu55=
ENST00000559136.1:c.564G= ENSP00000453337.1:p.Glu188=
NM_000359.2:c.1491G= NP_000350.1:p.Glu497=
NM_000359.3:c.1491G= MANE Select NP_000350.1:p.Glu497=