Canonical Allele Identifier: CA389265350
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259222G>T , CM000676.2:g.24259222G>T GRCh38
NC_000014.8:g.24728428G>T , CM000676.1:g.24728428G>T GRCh37
NC_000014.7:g.23798268G>T NCBI36
NG_007150.1:g.8945C>A
NG_007150.2:g.8945C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1012C>A MANE Select ENSP00000206765.6:p.Leu338Met
ENST00000206765.10:c.1012C>A ENSP00000206765.6:p.Leu338Met
ENST00000544573.5:c.-28-834C>A ENSP00000439446.1:n.-28-834C>A
ENST00000559136.1:c.85C>A ENSP00000453337.1:p.Leu29Met
NM_000359.2:c.1012C>A NP_000350.1:p.Leu338Met
NM_000359.3:c.1012C>A MANE Select NP_000350.1:p.Leu338Met