Canonical Allele Identifier: CA382589848

Gene: DIXDC1

Linked Data

• MyVariant Identifiers: chr11:g.111887421C>G (hg19) ; chr11:g.112016697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016697C>G , CM000673.2:g.112016697C>G	GRCh38
NC_000011.9:g.111887421C>G , CM000673.1:g.111887421C>G	GRCh37
NC_000011.8:g.111392631C>G	NCBI36
NG_033127.1:g.94555C>G
NG_033127.2:g.94554C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1763C>G MANE Select	ENSP00000394352.3:p.Pro588Arg
ENST00000440460.6:c.1763C>G	ENSP00000394352.3:p.Pro588Arg
ENST00000526500.5:n.759C>G
ENST00000615255.1:c.1130C>G	ENSP00000480808.1:p.Pro377Arg
ENST00000618522.4:n.1116C>G
NM_001037954.3:c.1763C>G	NP_001033043.1:p.Pro588Arg
NM_033425.4:c.1130C>G	NP_219493.1:p.Pro377Arg
XM_005277726.3:c.1763C>G	XP_005277783.1:p.Pro588Arg
XM_005277727.3:c.1760C>G	XP_005277784.1:p.Pro587Arg
XM_005277728.3:c.1130C>G	XP_005277785.1:p.Pro377Arg
XM_011543045.1:c.881C>G	XP_011541347.1:p.Pro294Arg
XM_011543046.1:c.875C>G	XP_011541348.1:p.Pro292Arg
XM_017018466.2:c.1760C>G	XP_016873955.1:p.Pro587Arg
XM_017018467.1:c.1760C>G	XP_016873956.1:p.Pro587Arg
XM_017018468.1:c.881C>G	XP_016873957.1:p.Pro294Arg
XM_017018469.1:c.875C>G	XP_016873958.1:p.Pro292Arg
XM_024448742.1:c.1655C>G	XP_024304510.1:p.Pro552Arg
XM_024448743.1:c.1652C>G	XP_024304511.1:p.Pro551Arg
NM_001037954.4:c.1763C>G MANE Select	NP_001033043.1:p.Pro588Arg
NM_033425.5:c.1130C>G	NP_219493.1:p.Pro377Arg