Canonical Allele Identifier: CA9731828
Gene: TGM6 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.2399704C>T
GRCh37 chr20:g.2380350C>T
gnomAD v2:
20:2380350 C / T
gnomAD v3:
20:2399704 C / T
gnomAD v4:
chr20-2399704-C-T
Joint Max Group AF 0.00009524 (NFE)
Genomes Max Group AF 0.00008868 (AMR)
Exomes Max Group AF 0.00009665 (NFE)
ClinVar Allele:
349749
ClinVar RCV:
RCV000283541
ClinVar Variation:
337912
dbSNP:
368599004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2399704C>T , CM000682.2:g.2399704C>T GRCh38
NC_000020.10:g.2380350C>T , CM000682.1:g.2380350C>T GRCh37
NC_000020.9:g.2328350C>T NCBI36
NG_031917.1:g.23797C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000202625.7:c.816C>T MANE Select ENSP00000202625.2:p.Gly272=
ENST00000202625.6:c.816C>T ENSP00000202625.2:p.Gly272=
ENST00000381423.1:c.816C>T ENSP00000370831.1:p.Gly272=
ENST00000477505.1:n.447C>T
NM_001254734.1:c.816C>T NP_001241663.1:p.Gly272=
NM_198994.2:c.816C>T NP_945345.2:p.Gly272=
NM_001254734.2:c.816C>T NP_001241663.1:p.Gly272=
NM_198994.3:c.816C>T MANE Select NP_945345.2:p.Gly272=
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Search 100 bp 3'