Canonical Allele Identifier: CA389265341
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259221A>C , CM000676.2:g.24259221A>C GRCh38
NC_000014.8:g.24728427A>C , CM000676.1:g.24728427A>C GRCh37
NC_000014.7:g.23798267A>C NCBI36
NG_007150.1:g.8946T>G
NG_007150.2:g.8946T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1013T>G MANE Select ENSP00000206765.6:p.Leu338Arg
ENST00000206765.10:c.1013T>G ENSP00000206765.6:p.Leu338Arg
ENST00000544573.5:c.-28-833T>G ENSP00000439446.1:n.-28-833T>G
ENST00000559136.1:c.86T>G ENSP00000453337.1:p.Leu29Arg
NM_000359.2:c.1013T>G NP_000350.1:p.Leu338Arg
NM_000359.3:c.1013T>G MANE Select NP_000350.1:p.Leu338Arg