Canonical Allele Identifier: CA382589892

Gene: DIXDC1

Linked Data

• gnomAD v4: 11-112016703-C-A
• MyVariant Identifiers: chr11:g.111887427C>A (hg19) ; chr11:g.112016703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016703C>A , CM000673.2:g.112016703C>A	GRCh38
NC_000011.9:g.111887427C>A , CM000673.1:g.111887427C>A	GRCh37
NC_000011.8:g.111392637C>A	NCBI36
NG_033127.1:g.94561C>A
NG_033127.2:g.94560C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1769C>A MANE Select	ENSP00000394352.3:p.Ser590Ter
ENST00000440460.6:c.1769C>A	ENSP00000394352.3:p.Ser590Ter
ENST00000526500.5:n.765C>A
ENST00000615255.1:c.1136C>A	ENSP00000480808.1:p.Ser379Ter
ENST00000618522.4:n.1122C>A
NM_001037954.3:c.1769C>A	NP_001033043.1:p.Ser590Ter
NM_033425.4:c.1136C>A	NP_219493.1:p.Ser379Ter
XM_005277726.3:c.1769C>A	XP_005277783.1:p.Ser590Ter
XM_005277727.3:c.1766C>A	XP_005277784.1:p.Ser589Ter
XM_005277728.3:c.1136C>A	XP_005277785.1:p.Ser379Ter
XM_011543045.1:c.887C>A	XP_011541347.1:p.Ser296Ter
XM_011543046.1:c.881C>A	XP_011541348.1:p.Ser294Ter
XM_017018466.2:c.1766C>A	XP_016873955.1:p.Ser589Ter
XM_017018467.1:c.1766C>A	XP_016873956.1:p.Ser589Ter
XM_017018468.1:c.887C>A	XP_016873957.1:p.Ser296Ter
XM_017018469.1:c.881C>A	XP_016873958.1:p.Ser294Ter
XM_024448742.1:c.1661C>A	XP_024304510.1:p.Ser554Ter
XM_024448743.1:c.1658C>A	XP_024304511.1:p.Ser553Ter
NM_001037954.4:c.1769C>A MANE Select	NP_001033043.1:p.Ser590Ter
NM_033425.5:c.1136C>A	NP_219493.1:p.Ser379Ter