Canonical Allele Identifier: CA3984018
Gene: TRDN HGNC NCBI
COSMIC:
COSM5671806 (not active)
MyVariant.info:
GRCh38 chr6:g.123366174G>C
GRCh37 chr6:g.123687319G>C
Revel Score:
ENST00000398178 0.065
ENST00000398161 0.065
ENST00000334268 (MANE Select) 0.065
gnomAD v2:
6:123687319 G / C
gnomAD v3:
6:123366174 G / C
gnomAD v4:
chr6-123366174-G-C
Joint Max Group AF 0.00003153 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003087 (NFE)
ClinVar RCV:
RCV000252200
RCV002487155
ClinVar Variation:
264241
dbSNP:
202219343
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.123366174G>C , CM000668.2:g.123366174G>C GRCh38
NC_000006.11:g.123687319G>C , CM000668.1:g.123687319G>C GRCh37
NC_000006.10:g.123729018G>C NCBI36
NG_030438.1:g.275920C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334268.9:c.1282C>G MANE Select ENSP00000333984.5:p.Arg428Gly
ENST00000662930.1:c.1285C>G ENSP00000499585.1:p.Arg429Gly
ENST00000334268.8:c.1282C>G ENSP00000333984.5:p.Arg428Gly
NM_001251987.1:c.1285C>G NP_001238916.1:p.Arg429Gly
NM_006073.3:c.1282C>G NP_006064.2:p.Arg428Gly
XM_011535382.1:c.1279C>G XP_011533684.1:p.Arg427Gly
NM_006073.4:c.1282C>G MANE Select NP_006064.2:p.Arg428Gly
NM_001251987.2:c.1285C>G NP_001238916.1:p.Arg429Gly
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