Canonical Allele Identifier: CA485663832
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24728309G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259103G>A , CM000676.2:g.24259103G>A GRCh38
NC_000014.8:g.24728309G>A , CM000676.1:g.24728309G>A GRCh37
NC_000014.7:g.23798149G>A NCBI36
NG_007150.1:g.9064C>T
NG_007150.2:g.9064C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1131C>T MANE Select ENSP00000206765.6:p.Cys377=
ENST00000206765.10:c.1131C>T ENSP00000206765.6:p.Cys377=
ENST00000544573.5:c.-28-715C>T ENSP00000439446.1:n.-28-715C>T
ENST00000559136.1:c.204C>T ENSP00000453337.1:p.Cys68=
NM_000359.2:c.1131C>T NP_000350.1:p.Cys377=
NM_000359.3:c.1131C>T MANE Select NP_000350.1:p.Cys377=