Canonical Allele Identifier: CA3983825
Gene: TRDN HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.123273009G>T
GRCh37 chr6:g.123594154G>T
Revel Score:
ENST00000398178 0.019
ENST00000398161 0.019
ENST00000334268 (MANE Select) 0.019
gnomAD v2:
6:123594154 G / T
gnomAD v3:
6:123273009 G / T
gnomAD v4:
chr6-123273009-G-T
Joint Max Group AF 0.00093379 (EAS)
Genomes Max Group AF 0.00163448 (EAS)
Exomes Max Group AF 0.00072092 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.123273009G>T , CM000668.2:g.123273009G>T GRCh38
NC_000006.11:g.123594154G>T , CM000668.1:g.123594154G>T GRCh37
NC_000006.10:g.123635853G>T NCBI36
NG_030438.1:g.369085C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334268.9:c.1627C>A MANE Select ENSP00000333984.5:p.Gln543Lys
ENST00000334268.8:c.1627C>A ENSP00000333984.5:p.Gln543Lys
NM_006073.3:c.1627C>A NP_006064.2:p.Gln543Lys
XM_011535382.1:c.1546C>A XP_011533684.1:p.Gln516Lys
NM_006073.4:c.1627C>A MANE Select NP_006064.2:p.Gln543Lys
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