Canonical Allele Identifier: CA382589832

Gene: DIXDC1

Linked Data

• gnomAD v4: 11-112016696-C-T
• MyVariant Identifiers: chr11:g.111887420C>T (hg19) ; chr11:g.112016696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016696C>T , CM000673.2:g.112016696C>T	GRCh38
NC_000011.9:g.111887420C>T , CM000673.1:g.111887420C>T	GRCh37
NC_000011.8:g.111392630C>T	NCBI36
NG_033127.1:g.94554C>T
NG_033127.2:g.94553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1762C>T MANE Select	ENSP00000394352.3:p.Pro588Ser
ENST00000440460.6:c.1762C>T	ENSP00000394352.3:p.Pro588Ser
ENST00000526500.5:n.758C>T
ENST00000615255.1:c.1129C>T	ENSP00000480808.1:p.Pro377Ser
ENST00000618522.4:n.1115C>T
NM_001037954.3:c.1762C>T	NP_001033043.1:p.Pro588Ser
NM_033425.4:c.1129C>T	NP_219493.1:p.Pro377Ser
XM_005277726.3:c.1762C>T	XP_005277783.1:p.Pro588Ser
XM_005277727.3:c.1759C>T	XP_005277784.1:p.Pro587Ser
XM_005277728.3:c.1129C>T	XP_005277785.1:p.Pro377Ser
XM_011543045.1:c.880C>T	XP_011541347.1:p.Pro294Ser
XM_011543046.1:c.874C>T	XP_011541348.1:p.Pro292Ser
XM_017018466.2:c.1759C>T	XP_016873955.1:p.Pro587Ser
XM_017018467.1:c.1759C>T	XP_016873956.1:p.Pro587Ser
XM_017018468.1:c.880C>T	XP_016873957.1:p.Pro294Ser
XM_017018469.1:c.874C>T	XP_016873958.1:p.Pro292Ser
XM_024448742.1:c.1654C>T	XP_024304510.1:p.Pro552Ser
XM_024448743.1:c.1651C>T	XP_024304511.1:p.Pro551Ser
NM_001037954.4:c.1762C>T MANE Select	NP_001033043.1:p.Pro588Ser
NM_033425.5:c.1129C>T	NP_219493.1:p.Pro377Ser