Canonical Allele Identifier: CA256466
Gene: TGM1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12488
ClinVar RCV Id: RCV000013310
dbSNP Id: rs121918722

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259087C>T , CM000676.2:g.24259087C>T GRCh38
NC_000014.8:g.24728293C>T , CM000676.1:g.24728293C>T GRCh37
NC_000014.7:g.23798133C>T NCBI36
NG_007150.1:g.9080G>A

Transcript Alleles

HGVS Amino-acid change
NM_000359.2:c.1147G>A VV NP_000350.1:p.Val383Met
NM_000359.3:c.1147G>A VV MANE Preferred NP_000350.1:p.Val383Met
ENST00000206765.10:c.1147G>A ENSP00000206765.6:p.Val383Met
ENST00000544573.5:c.-28-699G>A ENSP00000439446.1:p.=
ENST00000559136.1:c.220G>A ENSP00000453337.1:p.Val74Met