Canonical Allele Identifier: CA389264388
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259150G>C , CM000676.2:g.24259150G>C GRCh38
NC_000014.8:g.24728356G>C , CM000676.1:g.24728356G>C GRCh37
NC_000014.7:g.23798196G>C NCBI36
NG_007150.1:g.9017C>G
NG_007150.2:g.9017C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1084C>G MANE Select ENSP00000206765.6:p.Leu362Val
ENST00000206765.10:c.1084C>G ENSP00000206765.6:p.Leu362Val
ENST00000544573.5:c.-28-762C>G ENSP00000439446.1:n.-28-762C>G
ENST00000559136.1:c.157C>G ENSP00000453337.1:p.Leu53Val
NM_000359.2:c.1084C>G NP_000350.1:p.Leu362Val
NM_000359.3:c.1084C>G MANE Select NP_000350.1:p.Leu362Val