Canonical Allele Identifier: CA389269375
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24729147T>C (hg19) chr14:g.24259941T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259941T>C , CM000676.2:g.24259941T>C GRCh38
NC_000014.8:g.24729147T>C , CM000676.1:g.24729147T>C GRCh37
NC_000014.7:g.23798987T>C NCBI36
NG_007150.1:g.8226A>G
NG_007150.2:g.8226A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.875A>G MANE Select ENSP00000206765.6:p.Gln292Arg
ENST00000206765.10:c.875A>G ENSP00000206765.6:p.Gln292Arg
ENST00000544573.5:c.-28-1553A>G ENSP00000439446.1:n.-28-1553A>G
ENST00000559136.1:c.-53A>G ENSP00000453337.1:n.-53A>G
NM_000359.2:c.875A>G NP_000350.1:p.Gln292Arg
NM_000359.3:c.875A>G MANE Select NP_000350.1:p.Gln292Arg
Search 100 bp 5'
Search 100 bp 3'