Canonical Allele Identifier: CA485663977
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24728396T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259190T>A , CM000676.2:g.24259190T>A GRCh38
NC_000014.8:g.24728396T>A , CM000676.1:g.24728396T>A GRCh37
NC_000014.7:g.23798236T>A NCBI36
NG_007150.1:g.8977A>T
NG_007150.2:g.8977A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1044A>T MANE Select ENSP00000206765.6:p.Arg348=
ENST00000206765.10:c.1044A>T ENSP00000206765.6:p.Arg348=
ENST00000544573.5:c.-28-802A>T ENSP00000439446.1:n.-28-802A>T
ENST00000559136.1:c.117A>T ENSP00000453337.1:p.Arg39=
NM_000359.2:c.1044A>T NP_000350.1:p.Arg348=
NM_000359.3:c.1044A>T MANE Select NP_000350.1:p.Arg348=