Canonical Allele Identifier: CA256458
Gene: TGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.24262228G>T
GRCh37 chr14:g.24731434G>T
Revel Score:
ENST00000206765 (MANE Select) 0.564
gnomAD v2:
14:24731434 G / T
gnomAD v3:
14:24262228 G / T
gnomAD v4:
chr14-24262228-G-T
Joint Max Group AF 0.00604957 (NFE)
Genomes Max Group AF 0.00551643 (NFE)
Exomes Max Group AF 0.00605658 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24262228G>T , CM000676.2:g.24262228G>T GRCh38
NC_000014.8:g.24731434G>T , CM000676.1:g.24731434G>T GRCh37
NC_000014.7:g.23801274G>T NCBI36
NG_007150.1:g.5939C>A
NG_007150.2:g.5939C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.125C>A MANE Select ENSP00000206765.6:p.Ser42Tyr
ENST00000206765.10:c.125C>A ENSP00000206765.6:p.Ser42Tyr
ENST00000544573.5:c.-130C>A ENSP00000439446.1:n.-130C>A
ENST00000558074.1:c.125C>A ENSP00000453840.1:p.Ser42Tyr
ENST00000560226.1:c.125C>A ENSP00000454070.1:p.Ser42Tyr
ENST00000560443.1:c.125C>A ENSP00000452822.1:p.Ser42Tyr
ENST00000560478.1:c.125C>A ENSP00000453234.1:p.Ser42Tyr
NM_000359.2:c.125C>A NP_000350.1:p.Ser42Tyr
NM_000359.3:c.125C>A MANE Select NP_000350.1:p.Ser42Tyr
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