Canonical Allele Identifier: CA389265263
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259216C>G , CM000676.2:g.24259216C>G GRCh38
NC_000014.8:g.24728422C>G , CM000676.1:g.24728422C>G GRCh37
NC_000014.7:g.23798262C>G NCBI36
NG_007150.1:g.8951G>C
NG_007150.2:g.8951G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1018G>C MANE Select ENSP00000206765.6:p.Gly340Arg
ENST00000206765.10:c.1018G>C ENSP00000206765.6:p.Gly340Arg
ENST00000544573.5:c.-28-828G>C ENSP00000439446.1:n.-28-828G>C
ENST00000559136.1:c.91G>C ENSP00000453337.1:p.Gly31Arg
NM_000359.2:c.1018G>C NP_000350.1:p.Gly340Arg
NM_000359.3:c.1018G>C MANE Select NP_000350.1:p.Gly340Arg