Canonical Allele Identifier: CA389265023
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24728400G>T (hg19) chr14:g.24259194G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259194G>T , CM000676.2:g.24259194G>T GRCh38
NC_000014.8:g.24728400G>T , CM000676.1:g.24728400G>T GRCh37
NC_000014.7:g.23798240G>T NCBI36
NG_007150.1:g.8973C>A
NG_007150.2:g.8973C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1040C>A MANE Select ENSP00000206765.6:p.Ser347Tyr
ENST00000206765.10:c.1040C>A ENSP00000206765.6:p.Ser347Tyr
ENST00000544573.5:c.-28-806C>A ENSP00000439446.1:n.-28-806C>A
ENST00000559136.1:c.113C>A ENSP00000453337.1:p.Ser38Tyr
NM_000359.2:c.1040C>A NP_000350.1:p.Ser347Tyr
NM_000359.3:c.1040C>A MANE Select NP_000350.1:p.Ser347Tyr
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