Canonical Allele Identifier: CA256469
Gene: TGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.24259984C>T
GRCh37 chr14:g.24729190C>T
Revel Score:
ENST00000206765 (MANE Select) 0.980
gnomAD v2:
14:24729190 C / T
gnomAD v3:
14:24259984 C / T
gnomAD v4:
chr14-24259984-C-T
Joint Max Group AF 0.00000878 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar RCV:
RCV000013315
RCV000439800
ClinVar Variation:
12492
dbSNP:
121918725
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259984C>T , CM000676.2:g.24259984C>T GRCh38
NC_000014.8:g.24729190C>T , CM000676.1:g.24729190C>T GRCh37
NC_000014.7:g.23799030C>T NCBI36
NG_007150.1:g.8183G>A
NG_007150.2:g.8183G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.832G>A MANE Select ENSP00000206765.6:p.Gly278Arg
ENST00000206765.10:c.832G>A ENSP00000206765.6:p.Gly278Arg
ENST00000544573.5:c.-28-1596G>A ENSP00000439446.1:n.-28-1596G>A
ENST00000559136.1:c.-96G>A ENSP00000453337.1:n.-96G>A
NM_000359.2:c.832G>A NP_000350.1:p.Gly278Arg
NM_000359.3:c.832G>A MANE Select NP_000350.1:p.Gly278Arg
Search 100 bp 5'
Search 100 bp 3'