Canonical Allele Identifier: CA389255685
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24725203A>C (hg19) chr14:g.24255997A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255997A>C , CM000676.2:g.24255997A>C GRCh38
NC_000014.8:g.24725203A>C , CM000676.1:g.24725203A>C GRCh37
NC_000014.7:g.23795043A>C NCBI36
NG_007150.1:g.12170T>G
NG_007150.2:g.12170T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1483T>G MANE Select ENSP00000206765.6:p.Phe495Val
ENST00000206765.10:c.1483T>G ENSP00000206765.6:p.Phe495Val
ENST00000544573.5:c.157T>G ENSP00000439446.1:p.Phe53Val
ENST00000559136.1:c.556T>G ENSP00000453337.1:p.Phe186Val
NM_000359.2:c.1483T>G NP_000350.1:p.Phe495Val
NM_000359.3:c.1483T>G MANE Select NP_000350.1:p.Phe495Val
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