Canonical Allele Identifier: CA382590383
Community Standard Title: NM_001037954.4(DIXDC1):c.1835C>G (p.Thr612Arg)
Gene: DIXDC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112016769C>G , CM000673.2:g.112016769C>G GRCh38
NC_000011.9:g.111887493C>G , CM000673.1:g.111887493C>G GRCh37
NC_000011.8:g.111392703C>G NCBI36
NG_033127.1:g.94627C>G
NG_033127.2:g.94626C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001037954.4:c.1835C>G MANE Select NP_001033043.1:p.Thr612Arg
ENST00000440460.7:c.1835C>G MANE Select ENSP00000394352.3:p.Thr612Arg
NM_001037954.3:c.1835C>G NP_001033043.1:p.Thr612Arg
NM_033425.4:c.1202C>G NP_219493.1:p.Thr401Arg
NM_033425.5:c.1202C>G NP_219493.1:p.Thr401Arg
ENST00000440460.6:c.1835C>G ENSP00000394352.3:p.Thr612Arg
ENST00000526500.5:n.831C>G
ENST00000615255.1:c.1202C>G ENSP00000480808.1:p.Thr401Arg
ENST00000618522.4:n.1188C>G
XM_005277726.3:c.1835C>G XP_005277783.1:p.Thr612Arg
XM_005277727.3:c.1832C>G XP_005277784.1:p.Thr611Arg
XM_005277728.3:c.1202C>G XP_005277785.1:p.Thr401Arg
XM_011543045.1:c.953C>G XP_011541347.1:p.Thr318Arg
XM_011543046.1:c.947C>G XP_011541348.1:p.Thr316Arg
XM_017018466.2:c.1832C>G XP_016873955.1:p.Thr611Arg
XM_017018467.1:c.1832C>G XP_016873956.1:p.Thr611Arg
XM_017018468.1:c.953C>G XP_016873957.1:p.Thr318Arg
XM_017018469.1:c.947C>G XP_016873958.1:p.Thr316Arg
XM_024448742.1:c.1727C>G XP_024304510.1:p.Thr576Arg
XM_024448743.1:c.1724C>G XP_024304511.1:p.Thr575Arg