Canonical Allele Identifier: CA256468
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12491
dbSNP Id: rs121918724

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256011T>C , CM000676.2:g.24256011T>C GRCh38
NC_000014.8:g.24725217T>C , CM000676.1:g.24725217T>C GRCh37
NC_000014.7:g.23795057T>C NCBI36
NG_007150.1:g.12156A>G
NG_007150.2:g.12156A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1469A>G MANE Select ENSP00000206765.6:p.Asp490Gly
ENST00000206765.10:c.1469A>G ENSP00000206765.6:p.Asp490Gly
ENST00000544573.5:c.143A>G ENSP00000439446.1:p.Asp48Gly
ENST00000559136.1:c.542A>G ENSP00000453337.1:p.Asp181Gly
NM_000359.2:c.1469A>G NP_000350.1:p.Asp490Gly
NM_000359.3:c.1469A>G MANE Select NP_000350.1:p.Asp490Gly