Canonical Allele Identifier: CA389255772
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24725207G>C (hg19) chr14:g.24256001G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256001G>C , CM000676.2:g.24256001G>C GRCh38
NC_000014.8:g.24725207G>C , CM000676.1:g.24725207G>C GRCh37
NC_000014.7:g.23795047G>C NCBI36
NG_007150.1:g.12166C>G
NG_007150.2:g.12166C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1479C>G MANE Select ENSP00000206765.6:p.Phe493Leu
ENST00000206765.10:c.1479C>G ENSP00000206765.6:p.Phe493Leu
ENST00000544573.5:c.153C>G ENSP00000439446.1:p.Phe51Leu
ENST00000559136.1:c.552C>G ENSP00000453337.1:p.Phe184Leu
NM_000359.2:c.1479C>G NP_000350.1:p.Phe493Leu
NM_000359.3:c.1479C>G MANE Select NP_000350.1:p.Phe493Leu
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