Canonical Allele Identifier: CA382590516

Gene: DIXDC1

Linked Data

• gnomAD v4: 11-112016797-G-A
• MyVariant Identifiers: chr11:g.111887521G>A (hg19) ; chr11:g.112016797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016797G>A , CM000673.2:g.112016797G>A	GRCh38
NC_000011.9:g.111887521G>A , CM000673.1:g.111887521G>A	GRCh37
NC_000011.8:g.111392731G>A	NCBI36
NG_033127.1:g.94655G>A
NG_033127.2:g.94654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1862+1G>A MANE Select	ENSP00000394352.3:n.1862+1G>A
ENST00000440460.6:c.1862+1G>A	ENSP00000394352.3:n.1862+1G>A
ENST00000526500.5:n.858+1G>A
ENST00000615255.1:c.1229+1G>A	ENSP00000480808.1:n.1229+1G>A
ENST00000618522.4:n.1215+1G>A
NM_001037954.3:c.1862+1G>A	NP_001033043.1:n.1862+1G>A
NM_033425.4:c.1229+1G>A	NP_219493.1:n.1229+1G>A
XM_005277726.3:c.1862+1G>A	XP_005277783.1:n.1862+1G>A
XM_005277727.3:c.1859+1G>A	XP_005277784.1:n.1859+1G>A
XM_005277728.3:c.1229+1G>A	XP_005277785.1:n.1229+1G>A
XM_011543045.1:c.980+1G>A	XP_011541347.1:n.980+1G>A
XM_011543046.1:c.974+1G>A	XP_011541348.1:n.974+1G>A
XM_017018466.2:c.1859+1G>A	XP_016873955.1:n.1859+1G>A
XM_017018467.1:c.1859+1G>A	XP_016873956.1:n.1859+1G>A
XM_017018468.1:c.980+1G>A	XP_016873957.1:n.980+1G>A
XM_017018469.1:c.974+1G>A	XP_016873958.1:n.974+1G>A
XM_024448742.1:c.1754+1G>A	XP_024304510.1:n.1754+1G>A
XM_024448743.1:c.1751+1G>A	XP_024304511.1:n.1751+1G>A
NM_001037954.4:c.1862+1G>A MANE Select	NP_001033043.1:n.1862+1G>A
NM_033425.5:c.1229+1G>A	NP_219493.1:n.1229+1G>A