Canonical Allele Identifier: CA2590067945
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v3: 14-24259023-C-G
gnomAD v4: 14-24259023-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259023C>G , CM000676.2:g.24259023C>G GRCh38
NC_000014.8:g.24728229C>G , CM000676.1:g.24728229C>G GRCh37
NC_000014.7:g.23798069C>G NCBI36
NG_007150.1:g.9144G>C
NG_007150.2:g.9144G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1159+52G>C MANE Select ENSP00000206765.6:n.1159+52G>C
ENST00000206765.10:c.1159+52G>C ENSP00000206765.6:n.1159+52G>C
ENST00000544573.5:c.-28-635G>C ENSP00000439446.1:n.-28-635G>C
ENST00000559136.1:c.232+52G>C ENSP00000453337.1:n.232+52G>C
NM_000359.2:c.1159+52G>C NP_000350.1:n.1159+52G>C
NM_000359.3:c.1159+52G>C MANE Select NP_000350.1:n.1159+52G>C
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