Canonical Allele Identifier: CA3984078
Gene: TRDN HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.123377892T>A
GRCh37 chr6:g.123699037T>A
Revel Score:
ENST00000398178 0.119
ENST00000398161 0.119
ENST00000334268 (MANE Select) 0.119
gnomAD v2:
6:123699037 T / A
gnomAD v3:
6:123377892 T / A
gnomAD v4:
chr6-123377892-T-A
Joint Max Group AF 0.00122092 (AFR)
Genomes Max Group AF 0.00115027 (AFR)
Exomes Max Group AF 0.00111135 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.123377892T>A , CM000668.2:g.123377892T>A GRCh38
NC_000006.11:g.123699037T>A , CM000668.1:g.123699037T>A GRCh37
NC_000006.10:g.123740736T>A NCBI36
NG_030438.1:g.264202A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334268.9:c.1193A>T MANE Select ENSP00000333984.5:p.Glu398Val
ENST00000662930.1:c.1196A>T ENSP00000499585.1:p.Glu399Val
ENST00000334268.8:c.1193A>T ENSP00000333984.5:p.Glu398Val
NM_001251987.1:c.1196A>T NP_001238916.1:p.Glu399Val
NM_006073.3:c.1193A>T NP_006064.2:p.Glu398Val
XM_011535382.1:c.1190A>T XP_011533684.1:p.Glu397Val
NM_006073.4:c.1193A>T MANE Select NP_006064.2:p.Glu398Val
NM_001251987.2:c.1196A>T NP_001238916.1:p.Glu399Val
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