Canonical Allele Identifier: CA382589888

Gene: DIXDC1

Linked Data

• MyVariant Identifiers: chr11:g.111887427C>T (hg19) ; chr11:g.112016703C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1769C>T MANE Select	ENSP00000394352.3:p.Ser590Leu
ENST00000440460.6:c.1769C>T	ENSP00000394352.3:p.Ser590Leu
ENST00000526500.5:n.765C>T
ENST00000615255.1:c.1136C>T	ENSP00000480808.1:p.Ser379Leu
ENST00000618522.4:n.1122C>T
NM_001037954.3:c.1769C>T	NP_001033043.1:p.Ser590Leu
NM_033425.4:c.1136C>T	NP_219493.1:p.Ser379Leu
XM_005277726.3:c.1769C>T	XP_005277783.1:p.Ser590Leu
XM_005277727.3:c.1766C>T	XP_005277784.1:p.Ser589Leu
XM_005277728.3:c.1136C>T	XP_005277785.1:p.Ser379Leu
XM_011543045.1:c.887C>T	XP_011541347.1:p.Ser296Leu
XM_011543046.1:c.881C>T	XP_011541348.1:p.Ser294Leu
XM_017018466.2:c.1766C>T	XP_016873955.1:p.Ser589Leu
XM_017018467.1:c.1766C>T	XP_016873956.1:p.Ser589Leu
XM_017018468.1:c.887C>T	XP_016873957.1:p.Ser296Leu
XM_017018469.1:c.881C>T	XP_016873958.1:p.Ser294Leu
XM_024448742.1:c.1661C>T	XP_024304510.1:p.Ser554Leu
XM_024448743.1:c.1658C>T	XP_024304511.1:p.Ser553Leu
NM_001037954.4:c.1769C>T MANE Select	NP_001033043.1:p.Ser590Leu
NM_033425.5:c.1136C>T	NP_219493.1:p.Ser379Leu