Canonical Allele Identifier: CA485663982
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24728399G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259193G>T , CM000676.2:g.24259193G>T GRCh38
NC_000014.8:g.24728399G>T , CM000676.1:g.24728399G>T GRCh37
NC_000014.7:g.23798239G>T NCBI36
NG_007150.1:g.8974C>A
NG_007150.2:g.8974C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1041C>A MANE Select ENSP00000206765.6:p.Ser347=
ENST00000206765.10:c.1041C>A ENSP00000206765.6:p.Ser347=
ENST00000544573.5:c.-28-805C>A ENSP00000439446.1:n.-28-805C>A
ENST00000559136.1:c.114C>A ENSP00000453337.1:p.Ser38=
NM_000359.2:c.1041C>A NP_000350.1:p.Ser347=
NM_000359.3:c.1041C>A MANE Select NP_000350.1:p.Ser347=