Canonical Allele Identifier: CA382590395
Gene: DIXDC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112016772C>T , CM000673.2:g.112016772C>T GRCh38
NC_000011.9:g.111887496C>T , CM000673.1:g.111887496C>T GRCh37
NC_000011.8:g.111392706C>T NCBI36
NG_033127.1:g.94630C>T
NG_033127.2:g.94629C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000440460.7:c.1838C>T MANE Select ENSP00000394352.3:p.Pro613Leu
ENST00000440460.6:c.1838C>T ENSP00000394352.3:p.Pro613Leu
ENST00000526500.5:n.834C>T
ENST00000615255.1:c.1205C>T ENSP00000480808.1:p.Pro402Leu
ENST00000618522.4:n.1191C>T
NM_001037954.3:c.1838C>T NP_001033043.1:p.Pro613Leu
NM_033425.4:c.1205C>T NP_219493.1:p.Pro402Leu
XM_005277726.3:c.1838C>T XP_005277783.1:p.Pro613Leu
XM_005277727.3:c.1835C>T XP_005277784.1:p.Pro612Leu
XM_005277728.3:c.1205C>T XP_005277785.1:p.Pro402Leu
XM_011543045.1:c.956C>T XP_011541347.1:p.Pro319Leu
XM_011543046.1:c.950C>T XP_011541348.1:p.Pro317Leu
XM_017018466.2:c.1835C>T XP_016873955.1:p.Pro612Leu
XM_017018467.1:c.1835C>T XP_016873956.1:p.Pro612Leu
XM_017018468.1:c.956C>T XP_016873957.1:p.Pro319Leu
XM_017018469.1:c.950C>T XP_016873958.1:p.Pro317Leu
XM_024448742.1:c.1730C>T XP_024304510.1:p.Pro577Leu
XM_024448743.1:c.1727C>T XP_024304511.1:p.Pro576Leu
NM_001037954.4:c.1838C>T MANE Select NP_001033043.1:p.Pro613Leu
NM_033425.5:c.1205C>T NP_219493.1:p.Pro402Leu