Canonical Allele Identifier: CA256462
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12484
ClinVar RCV Id: RCV000013303 RCV000520296 RCV002281702
dbSNP Id: rs121918717
ExAC: 14:24728926 C / T
gnomAD v2: 14-24728926-C-T
gnomAD v3: 14-24259720-C-T
gnomAD v4: 14-24259720-C-T
MyVariant Identifiers: chr14:g.24728926C>T (hg19) chr14:g.24259720C>T (hg38)
PubMed: PMID:7824952
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259720C>T , CM000676.2:g.24259720C>T GRCh38
NC_000014.8:g.24728926C>T , CM000676.1:g.24728926C>T GRCh37
NC_000014.7:g.23798766C>T NCBI36
NG_007150.1:g.8447G>A
NG_007150.2:g.8447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.968G>A MANE Select ENSP00000206765.6:p.Arg323Gln
ENST00000206765.10:c.968G>A ENSP00000206765.6:p.Arg323Gln
ENST00000544573.5:c.-28-1332G>A ENSP00000439446.1:n.-28-1332G>A
ENST00000559136.1:c.41G>A ENSP00000453337.1:p.Arg14Gln
NM_000359.2:c.968G>A NP_000350.1:p.Arg323Gln
NM_000359.3:c.968G>A MANE Select NP_000350.1:p.Arg323Gln
Search 100 bp 5'
Search 100 bp 3'