Canonical Allele Identifier: CA389255745
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255999A>T , CM000676.2:g.24255999A>T GRCh38
NC_000014.8:g.24725205A>T , CM000676.1:g.24725205A>T GRCh37
NC_000014.7:g.23795045A>T NCBI36
NG_007150.1:g.12168T>A
NG_007150.2:g.12168T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1481T>A MANE Select ENSP00000206765.6:p.Ile494Asn
ENST00000206765.10:c.1481T>A ENSP00000206765.6:p.Ile494Asn
ENST00000544573.5:c.155T>A ENSP00000439446.1:p.Ile52Asn
ENST00000559136.1:c.554T>A ENSP00000453337.1:p.Ile185Asn
NM_000359.2:c.1481T>A NP_000350.1:p.Ile494Asn
NM_000359.3:c.1481T>A MANE Select NP_000350.1:p.Ile494Asn