Canonical Allele Identifier: CA382590462

Gene: DIXDC1

Linked Data

• MyVariant Identifiers: chr11:g.111887510A>C (hg19) ; chr11:g.112016786A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016786A>C , CM000673.2:g.112016786A>C	GRCh38
NC_000011.9:g.111887510A>C , CM000673.1:g.111887510A>C	GRCh37
NC_000011.8:g.111392720A>C	NCBI36
NG_033127.1:g.94644A>C
NG_033127.2:g.94643A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1852A>C MANE Select	ENSP00000394352.3:p.Ile618Leu
ENST00000440460.6:c.1852A>C	ENSP00000394352.3:p.Ile618Leu
ENST00000526500.5:n.848A>C
ENST00000615255.1:c.1219A>C	ENSP00000480808.1:p.Ile407Leu
ENST00000618522.4:n.1205A>C
NM_001037954.3:c.1852A>C	NP_001033043.1:p.Ile618Leu
NM_033425.4:c.1219A>C	NP_219493.1:p.Ile407Leu
XM_005277726.3:c.1852A>C	XP_005277783.1:p.Ile618Leu
XM_005277727.3:c.1849A>C	XP_005277784.1:p.Ile617Leu
XM_005277728.3:c.1219A>C	XP_005277785.1:p.Ile407Leu
XM_011543045.1:c.970A>C	XP_011541347.1:p.Ile324Leu
XM_011543046.1:c.964A>C	XP_011541348.1:p.Ile322Leu
XM_017018466.2:c.1849A>C	XP_016873955.1:p.Ile617Leu
XM_017018467.1:c.1849A>C	XP_016873956.1:p.Ile617Leu
XM_017018468.1:c.970A>C	XP_016873957.1:p.Ile324Leu
XM_017018469.1:c.964A>C	XP_016873958.1:p.Ile322Leu
XM_024448742.1:c.1744A>C	XP_024304510.1:p.Ile582Leu
XM_024448743.1:c.1741A>C	XP_024304511.1:p.Ile581Leu
NM_001037954.4:c.1852A>C MANE Select	NP_001033043.1:p.Ile618Leu
NM_033425.5:c.1219A>C	NP_219493.1:p.Ile407Leu