Canonical Allele Identifier: CA257898849
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs546300592
gnomAD v2: 14-24728638-C-T
gnomAD v3: 14-24259432-C-T
gnomAD v4: 14-24259432-C-T
MyVariant Identifiers: chr14:g.24728638C>T (hg19) chr14:g.24259432C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259432C>T , CM000676.2:g.24259432C>T GRCh38
NC_000014.8:g.24728638C>T , CM000676.1:g.24728638C>T GRCh37
NC_000014.7:g.23798478C>T NCBI36
NG_007150.1:g.8735G>A
NG_007150.2:g.8735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.985-183G>A MANE Select ENSP00000206765.6:n.985-183G>A
ENST00000206765.10:c.985-183G>A ENSP00000206765.6:n.985-183G>A
ENST00000544573.5:c.-28-1044G>A ENSP00000439446.1:n.-28-1044G>A
ENST00000559136.1:c.58-183G>A ENSP00000453337.1:n.58-183G>A
NM_000359.2:c.985-183G>A NP_000350.1:n.985-183G>A
NM_000359.3:c.985-183G>A MANE Select NP_000350.1:n.985-183G>A
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