Canonical Allele Identifier: CA3984427
Gene: TRDN HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.123548606G>A
GRCh37 chr6:g.123869751G>A
Revel Score:
ENST00000398178 0.341
ENST00000398161 0.341
ENST00000334268 (MANE Select) 0.341
ENST00000542014 0.341
ENST00000543022 0.341
ENST00000546248 0.341
ENST00000542443 0.341
gnomAD v2:
6:123869751 G / A
gnomAD v3:
6:123548606 G / A
gnomAD v4:
chr6-123548606-G-A
Joint Max Group AF 0.00203915 (AMR)
Genomes Max Group AF 0.00092236 (AMR)
Exomes Max Group AF 0.0027608 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.123548606G>A , CM000668.2:g.123548606G>A GRCh38
NC_000006.11:g.123869751G>A , CM000668.1:g.123869751G>A GRCh37
NC_000006.10:g.123911450G>A NCBI36
NG_030438.1:g.93488C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361029.9:c.41C>T ENSP00000354307.5:p.Ser14Phe
ENST00000422596.2:c.41C>T ENSP00000406768.2:p.Ser14Phe
ENST00000546248.6:c.239C>T ENSP00000439281.2:p.Ser80Phe
ENST00000334268.9:c.239C>T MANE Select ENSP00000333984.5:p.Ser80Phe
ENST00000662930.1:c.239C>T ENSP00000499585.1:p.Ser80Phe
ENST00000334268.8:c.239C>T ENSP00000333984.5:p.Ser80Phe
ENST00000542443.5:c.239C>T ENSP00000437684.1:p.Ser80Phe
ENST00000546248.5:c.239C>T ENSP00000439281.2:p.Ser80Phe
ENST00000628709.2:c.239C>T ENSP00000486095.1:p.Ser80Phe
NM_001251987.1:c.239C>T NP_001238916.1:p.Ser80Phe
NM_001256020.1:c.239C>T NP_001242949.1:p.Ser80Phe
NM_001256021.1:c.239C>T NP_001242950.1:p.Ser80Phe
NM_001256022.1:c.239C>T NP_001242951.1:p.Ser80Phe
NM_006073.3:c.239C>T NP_006064.2:p.Ser80Phe
XM_011535382.1:c.239C>T XP_011533684.1:p.Ser80Phe
XR_942945.1:n.2560-4750G>A
XR_001743830.1:n.1185-4750G>A
XR_001743831.1:n.3335-4750G>A
XR_001743832.1:n.3335-4750G>A
XR_001743833.1:n.2115-4750G>A
NM_006073.4:c.239C>T MANE Select NP_006064.2:p.Ser80Phe
NM_001251987.2:c.239C>T NP_001238916.1:p.Ser80Phe
NM_001256020.2:c.239C>T NP_001242949.1:p.Ser80Phe
NM_001256021.2:c.239C>T NP_001242950.1:p.Ser80Phe
NM_001256022.2:c.239C>T NP_001242951.1:p.Ser80Phe
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