Canonical Allele Identifier: CA389265358
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1010T>C MANE Select ENSP00000206765.6:p.Val337Ala
ENST00000206765.10:c.1010T>C ENSP00000206765.6:p.Val337Ala
ENST00000544573.5:c.-28-836T>C ENSP00000439446.1:n.-28-836T>C
ENST00000559136.1:c.83T>C ENSP00000453337.1:p.Val28Ala
NM_000359.2:c.1010T>C NP_000350.1:p.Val337Ala
NM_000359.3:c.1010T>C MANE Select NP_000350.1:p.Val337Ala