Canonical Allele Identifier: CA485664426
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24259752-A-G
MyVariant Identifiers: chr14:g.24728958A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259752A>G , CM000676.2:g.24259752A>G GRCh38
NC_000014.8:g.24728958A>G , CM000676.1:g.24728958A>G GRCh37
NC_000014.7:g.23798798A>G NCBI36
NG_007150.1:g.8415T>C
NG_007150.2:g.8415T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.936T>C MANE Select ENSP00000206765.6:p.Tyr312=
ENST00000206765.10:c.936T>C ENSP00000206765.6:p.Tyr312=
ENST00000544573.5:c.-28-1364T>C ENSP00000439446.1:n.-28-1364T>C
ENST00000559136.1:c.9T>C ENSP00000453337.1:p.Tyr3=
NM_000359.2:c.936T>C NP_000350.1:p.Tyr312=
NM_000359.3:c.936T>C MANE Select NP_000350.1:p.Tyr312=
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