Canonical Allele Identifier: CA389276828
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24730908T>A (hg19) chr14:g.24261702T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261702T>A , CM000676.2:g.24261702T>A GRCh38
NC_000014.8:g.24730908T>A , CM000676.1:g.24730908T>A GRCh37
NC_000014.7:g.23800748T>A NCBI36
NG_007150.1:g.6465A>T
NG_007150.2:g.6465A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.501A>T MANE Select ENSP00000206765.6:p.Leu167Phe
ENST00000206765.10:c.501A>T ENSP00000206765.6:p.Leu167Phe
ENST00000544573.5:c.-29+425A>T ENSP00000439446.1:n.-29+425A>T
NM_000359.2:c.501A>T NP_000350.1:p.Leu167Phe
NM_000359.3:c.501A>T MANE Select NP_000350.1:p.Leu167Phe
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