Canonical Allele Identifier: CA256465
Gene: TGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.24258646C>A
GRCh37 chr14:g.24727852C>A
Revel Score:
ENST00000206765 (MANE Select) 0.959
gnomAD v2:
14:24727852 C / A
gnomAD v3:
14:24258646 C / A
gnomAD v4:
chr14-24258646-C-A
Joint Max Group AF 0.0000103 (NFE)
Genomes Max Group AF 0.00009048 (NFE)
Exomes Max Group AF 0.00000309 (NFE)
ClinVar RCV:
RCV000013309
RCV000255177
ClinVar Variation:
12487
dbSNP:
121918721
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24258646C>A , CM000676.2:g.24258646C>A GRCh38
NC_000014.8:g.24727852C>A , CM000676.1:g.24727852C>A GRCh37
NC_000014.7:g.23797692C>A NCBI36
NG_007150.1:g.9521G>T
NG_007150.2:g.9521G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1187G>T MANE Select ENSP00000206765.6:p.Arg396Leu
ENST00000206765.10:c.1187G>T ENSP00000206765.6:p.Arg396Leu
ENST00000544573.5:c.-28-258G>T ENSP00000439446.1:n.-28-258G>T
ENST00000559136.1:c.260G>T ENSP00000453337.1:p.Arg87Leu
NM_000359.2:c.1187G>T NP_000350.1:p.Arg396Leu
NM_000359.3:c.1187G>T MANE Select NP_000350.1:p.Arg396Leu
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