Canonical Allele Identifier: CA389263394
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259086A>C , CM000676.2:g.24259086A>C GRCh38
NC_000014.8:g.24728292A>C , CM000676.1:g.24728292A>C GRCh37
NC_000014.7:g.23798132A>C NCBI36
NG_007150.1:g.9081T>G
NG_007150.2:g.9081T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1148T>G MANE Select ENSP00000206765.6:p.Val383Gly
ENST00000206765.10:c.1148T>G ENSP00000206765.6:p.Val383Gly
ENST00000544573.5:c.-28-698T>G ENSP00000439446.1:n.-28-698T>G
ENST00000559136.1:c.221T>G ENSP00000453337.1:p.Val74Gly
NM_000359.2:c.1148T>G NP_000350.1:p.Val383Gly
NM_000359.3:c.1148T>G MANE Select NP_000350.1:p.Val383Gly