Canonical Allele Identifier: CA501082
Community Standard Title: NM_000359.3(TGM1):c.377G>A (p.Arg126His)
Gene: TGM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261826C>T , CM000676.2:g.24261826C>T GRCh38
NC_000014.8:g.24731032C>T , CM000676.1:g.24731032C>T GRCh37
NC_000014.7:g.23800872C>T NCBI36
NG_007150.1:g.6341G>A
NG_007150.2:g.6341G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000359.3:c.377G>A MANE Select NP_000350.1:p.Arg126His
ENST00000206765.11:c.377G>A MANE Select ENSP00000206765.6:p.Arg126His
NM_000359.2:c.377G>A NP_000350.1:p.Arg126His
ENST00000206765.10:c.377G>A ENSP00000206765.6:p.Arg126His
ENST00000544573.5:c.-29+301G>A ENSP00000439446.1:n.-29+301G>A
ENST00000558074.1:c.377G>A ENSP00000453840.1:p.Arg126His
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