Canonical Allele Identifier: CA389255787
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24256003-A-G
MyVariant Identifiers: chr14:g.24725209A>G (hg19) chr14:g.24256003A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256003A>G , CM000676.2:g.24256003A>G GRCh38
NC_000014.8:g.24725209A>G , CM000676.1:g.24725209A>G GRCh37
NC_000014.7:g.23795049A>G NCBI36
NG_007150.1:g.12164T>C
NG_007150.2:g.12164T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1477T>C MANE Select ENSP00000206765.6:p.Phe493Leu
ENST00000206765.10:c.1477T>C ENSP00000206765.6:p.Phe493Leu
ENST00000544573.5:c.151T>C ENSP00000439446.1:p.Phe51Leu
ENST00000559136.1:c.550T>C ENSP00000453337.1:p.Phe184Leu
NM_000359.2:c.1477T>C NP_000350.1:p.Phe493Leu
NM_000359.3:c.1477T>C MANE Select NP_000350.1:p.Phe493Leu
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