Canonical Allele Identifier: CA389265015
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259194G>A , CM000676.2:g.24259194G>A GRCh38
NC_000014.8:g.24728400G>A , CM000676.1:g.24728400G>A GRCh37
NC_000014.7:g.23798240G>A NCBI36
NG_007150.1:g.8973C>T
NG_007150.2:g.8973C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1040C>T MANE Select ENSP00000206765.6:p.Ser347Phe
ENST00000206765.10:c.1040C>T ENSP00000206765.6:p.Ser347Phe
ENST00000544573.5:c.-28-806C>T ENSP00000439446.1:n.-28-806C>T
ENST00000559136.1:c.113C>T ENSP00000453337.1:p.Ser38Phe
NM_000359.2:c.1040C>T NP_000350.1:p.Ser347Phe
NM_000359.3:c.1040C>T MANE Select NP_000350.1:p.Ser347Phe