Canonical Allele Identifier: CA389256339
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1355803764

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256032C>G , CM000676.2:g.24256032C>G GRCh38
NC_000014.8:g.24725238C>G , CM000676.1:g.24725238C>G GRCh37
NC_000014.7:g.23795078C>G NCBI36
NG_007150.1:g.12135G>C
NG_007150.2:g.12135G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1448G>C MANE Select ENSP00000206765.6:p.Gly483Ala
ENST00000206765.10:c.1448G>C ENSP00000206765.6:p.Gly483Ala
ENST00000544573.5:c.122G>C ENSP00000439446.1:p.Gly41Ala
ENST00000559136.1:c.521G>C ENSP00000453337.1:p.Gly174Ala
NM_000359.2:c.1448G>C NP_000350.1:p.Gly483Ala
NM_000359.3:c.1448G>C MANE Select NP_000350.1:p.Gly483Ala