Canonical Allele Identifier: CA228536502

Gene: DIXDC1

Linked Data

• dbSNP Id: rs924174156
• gnomAD v2: 11-111887417-T-C
• gnomAD v4: 11-112016693-T-C
• MyVariant Identifiers: chr11:g.111887417T>C (hg19) ; chr11:g.112016693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016693T>C , CM000673.2:g.112016693T>C	GRCh38
NC_000011.9:g.111887417T>C , CM000673.1:g.111887417T>C	GRCh37
NC_000011.8:g.111392627T>C	NCBI36
NG_033127.1:g.94551T>C
NG_033127.2:g.94550T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000440460.7:c.1759T>C MANE Select	ENSP00000394352.3:p.Leu587=
ENST00000440460.6:c.1759T>C	ENSP00000394352.3:p.Leu587=
ENST00000526500.5:n.755T>C
ENST00000615255.1:c.1126T>C	ENSP00000480808.1:p.Leu376=
ENST00000618522.4:n.1112T>C
NM_001037954.3:c.1759T>C	NP_001033043.1:p.Leu587=
NM_033425.4:c.1126T>C	NP_219493.1:p.Leu376=
XM_005277726.3:c.1759T>C	XP_005277783.1:p.Leu587=
XM_005277727.3:c.1756T>C	XP_005277784.1:p.Leu586=
XM_005277728.3:c.1126T>C	XP_005277785.1:p.Leu376=
XM_011543045.1:c.877T>C	XP_011541347.1:p.Leu293=
XM_011543046.1:c.871T>C	XP_011541348.1:p.Leu291=
XM_017018466.2:c.1756T>C	XP_016873955.1:p.Leu586=
XM_017018467.1:c.1756T>C	XP_016873956.1:p.Leu586=
XM_017018468.1:c.877T>C	XP_016873957.1:p.Leu293=
XM_017018469.1:c.871T>C	XP_016873958.1:p.Leu291=
XM_024448742.1:c.1651T>C	XP_024304510.1:p.Leu551=
XM_024448743.1:c.1648T>C	XP_024304511.1:p.Leu550=
NM_001037954.4:c.1759T>C MANE Select	NP_001033043.1:p.Leu587=
NM_033425.5:c.1126T>C	NP_219493.1:p.Leu376=