Canonical Allele Identifier: CA389265046
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs2040783791
gnomAD v3: 14-24259197-T-C
gnomAD v4: 14-24259197-T-C
MyVariant Identifiers: chr14:g.24728403T>C (hg19) chr14:g.24259197T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259197T>C , CM000676.2:g.24259197T>C GRCh38
NC_000014.8:g.24728403T>C , CM000676.1:g.24728403T>C GRCh37
NC_000014.7:g.23798243T>C NCBI36
NG_007150.1:g.8970A>G
NG_007150.2:g.8970A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1037A>G MANE Select ENSP00000206765.6:p.Tyr346Cys
ENST00000206765.10:c.1037A>G ENSP00000206765.6:p.Tyr346Cys
ENST00000544573.5:c.-28-809A>G ENSP00000439446.1:n.-28-809A>G
ENST00000559136.1:c.110A>G ENSP00000453337.1:p.Tyr37Cys
NM_000359.2:c.1037A>G NP_000350.1:p.Tyr346Cys
NM_000359.3:c.1037A>G MANE Select NP_000350.1:p.Tyr346Cys
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