Canonical Allele Identifier: CA389256057
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256017T>C , CM000676.2:g.24256017T>C GRCh38
NC_000014.8:g.24725223T>C , CM000676.1:g.24725223T>C GRCh37
NC_000014.7:g.23795063T>C NCBI36
NG_007150.1:g.12150A>G
NG_007150.2:g.12150A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1463A>G MANE Select ENSP00000206765.6:p.Lys488Arg
ENST00000206765.10:c.1463A>G ENSP00000206765.6:p.Lys488Arg
ENST00000544573.5:c.137A>G ENSP00000439446.1:p.Lys46Arg
ENST00000559136.1:c.536A>G ENSP00000453337.1:p.Lys179Arg
NM_000359.2:c.1463A>G NP_000350.1:p.Lys488Arg
NM_000359.3:c.1463A>G MANE Select NP_000350.1:p.Lys488Arg