Canonical Allele Identifier: CA256461
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12483
dbSNP Id: rs121918716

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261779G>A , CM000676.2:g.24261779G>A GRCh38
NC_000014.8:g.24730985G>A , CM000676.1:g.24730985G>A GRCh37
NC_000014.7:g.23800825G>A NCBI36
NG_007150.1:g.6388C>T
NG_007150.2:g.6388C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.424C>T MANE Select ENSP00000206765.6:p.Arg142Cys
ENST00000206765.10:c.424C>T ENSP00000206765.6:p.Arg142Cys
ENST00000544573.5:c.-29+348C>T ENSP00000439446.1:n.-29+348C>T
NM_000359.2:c.424C>T NP_000350.1:p.Arg142Cys
NM_000359.3:c.424C>T MANE Select NP_000350.1:p.Arg142Cys