Canonical Allele Identifier: CA382589884

Gene: DIXDC1

Linked Data

• gnomAD v4: 11-112016702-T-C
• MyVariant Identifiers: chr11:g.111887426T>C (hg19) ; chr11:g.112016702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016702T>C , CM000673.2:g.112016702T>C	GRCh38
NC_000011.9:g.111887426T>C , CM000673.1:g.111887426T>C	GRCh37
NC_000011.8:g.111392636T>C	NCBI36
NG_033127.1:g.94560T>C
NG_033127.2:g.94559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1768T>C MANE Select	ENSP00000394352.3:p.Ser590Pro
ENST00000440460.6:c.1768T>C	ENSP00000394352.3:p.Ser590Pro
ENST00000526500.5:n.764T>C
ENST00000615255.1:c.1135T>C	ENSP00000480808.1:p.Ser379Pro
ENST00000618522.4:n.1121T>C
NM_001037954.3:c.1768T>C	NP_001033043.1:p.Ser590Pro
NM_033425.4:c.1135T>C	NP_219493.1:p.Ser379Pro
XM_005277726.3:c.1768T>C	XP_005277783.1:p.Ser590Pro
XM_005277727.3:c.1765T>C	XP_005277784.1:p.Ser589Pro
XM_005277728.3:c.1135T>C	XP_005277785.1:p.Ser379Pro
XM_011543045.1:c.886T>C	XP_011541347.1:p.Ser296Pro
XM_011543046.1:c.880T>C	XP_011541348.1:p.Ser294Pro
XM_017018466.2:c.1765T>C	XP_016873955.1:p.Ser589Pro
XM_017018467.1:c.1765T>C	XP_016873956.1:p.Ser589Pro
XM_017018468.1:c.886T>C	XP_016873957.1:p.Ser296Pro
XM_017018469.1:c.880T>C	XP_016873958.1:p.Ser294Pro
XM_024448742.1:c.1660T>C	XP_024304510.1:p.Ser554Pro
XM_024448743.1:c.1657T>C	XP_024304511.1:p.Ser553Pro
NM_001037954.4:c.1768T>C MANE Select	NP_001033043.1:p.Ser590Pro
NM_033425.5:c.1135T>C	NP_219493.1:p.Ser379Pro