Canonical Allele Identifier: CA261151
Gene: TGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.24259745G>A
GRCh37 chr14:g.24728951G>A
Revel Score:
ENST00000206765 (MANE Select) 0.793
gnomAD v2:
14:24728951 G / A
gnomAD v4:
chr14-24259745-G-A
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.0000031 (NFE)
ClinVar Allele:
48128
ClinVar RCV:
RCV000032727
RCV001852657
RCV003317052
ClinVar Variation:
39529
dbSNP:
397514525
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259745G>A , CM000676.2:g.24259745G>A GRCh38
NC_000014.8:g.24728951G>A , CM000676.1:g.24728951G>A GRCh37
NC_000014.7:g.23798791G>A NCBI36
NG_007150.1:g.8422C>T
NG_007150.2:g.8422C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.943C>T MANE Select ENSP00000206765.6:p.Arg315Cys
ENST00000206765.10:c.943C>T ENSP00000206765.6:p.Arg315Cys
ENST00000544573.5:c.-28-1357C>T ENSP00000439446.1:n.-28-1357C>T
ENST00000559136.1:c.16C>T ENSP00000453337.1:p.Arg6Cys
NM_000359.2:c.943C>T NP_000350.1:p.Arg315Cys
NM_000359.3:c.943C>T MANE Select NP_000350.1:p.Arg315Cys
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