Canonical Allele Identifier: CA389265362
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259224A>T , CM000676.2:g.24259224A>T GRCh38
NC_000014.8:g.24728430A>T , CM000676.1:g.24728430A>T GRCh37
NC_000014.7:g.23798270A>T NCBI36
NG_007150.1:g.8943T>A
NG_007150.2:g.8943T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1010T>A MANE Select ENSP00000206765.6:p.Val337Asp
ENST00000206765.10:c.1010T>A ENSP00000206765.6:p.Val337Asp
ENST00000544573.5:c.-28-836T>A ENSP00000439446.1:n.-28-836T>A
ENST00000559136.1:c.83T>A ENSP00000453337.1:p.Val28Asp
NM_000359.2:c.1010T>A NP_000350.1:p.Val337Asp
NM_000359.3:c.1010T>A MANE Select NP_000350.1:p.Val337Asp