Canonical Allele Identifier: CA382590440

Gene: DIXDC1

Linked Data

• MyVariant Identifiers: chr11:g.111887504G>C (hg19) ; chr11:g.112016780G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016780G>C , CM000673.2:g.112016780G>C	GRCh38
NC_000011.9:g.111887504G>C , CM000673.1:g.111887504G>C	GRCh37
NC_000011.8:g.111392714G>C	NCBI36
NG_033127.1:g.94638G>C
NG_033127.2:g.94637G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1846G>C MANE Select	ENSP00000394352.3:p.Val616Leu
ENST00000440460.6:c.1846G>C	ENSP00000394352.3:p.Val616Leu
ENST00000526500.5:n.842G>C
ENST00000615255.1:c.1213G>C	ENSP00000480808.1:p.Val405Leu
ENST00000618522.4:n.1199G>C
NM_001037954.3:c.1846G>C	NP_001033043.1:p.Val616Leu
NM_033425.4:c.1213G>C	NP_219493.1:p.Val405Leu
XM_005277726.3:c.1846G>C	XP_005277783.1:p.Val616Leu
XM_005277727.3:c.1843G>C	XP_005277784.1:p.Val615Leu
XM_005277728.3:c.1213G>C	XP_005277785.1:p.Val405Leu
XM_011543045.1:c.964G>C	XP_011541347.1:p.Val322Leu
XM_011543046.1:c.958G>C	XP_011541348.1:p.Val320Leu
XM_017018466.2:c.1843G>C	XP_016873955.1:p.Val615Leu
XM_017018467.1:c.1843G>C	XP_016873956.1:p.Val615Leu
XM_017018468.1:c.964G>C	XP_016873957.1:p.Val322Leu
XM_017018469.1:c.958G>C	XP_016873958.1:p.Val320Leu
XM_024448742.1:c.1738G>C	XP_024304510.1:p.Val580Leu
XM_024448743.1:c.1735G>C	XP_024304511.1:p.Val579Leu
NM_001037954.4:c.1846G>C MANE Select	NP_001033043.1:p.Val616Leu
NM_033425.5:c.1213G>C	NP_219493.1:p.Val405Leu