Canonical Allele Identifier: CA347997
Community Standard Title: NM_001012967.3(DDX60L):c.1633C>T (p.Arg545Trp)
Gene: DDX60L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.168430522G>A , CM000666.2:g.168430522G>A GRCh38
NC_000004.11:g.169351673G>A , CM000666.1:g.169351673G>A GRCh37
NC_000004.10:g.169588248G>A NCBI36
NG_051576.1:g.54993C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001012967.3:c.1633C>T MANE Select NP_001012985.2:p.Arg545Trp
ENST00000682922.1:c.1633C>T MANE Select ENSP00000507872.1:p.Arg545Trp
NM_001012967.2:c.1633C>T NP_001012985.2:p.Arg545Trp
NM_001291510.1:c.1633C>T NP_001278439.1:p.Arg545Trp
NM_001291510.2:c.1633C>T NP_001278439.1:p.Arg545Trp
NM_001345927.1:c.1633C>T NP_001332856.1:p.Arg545Trp
NM_001345927.2:c.1633C>T NP_001332856.1:p.Arg545Trp
NM_001378072.1:c.1633C>T NP_001365001.1:p.Arg545Trp
ENST00000260184.11:c.1633C>T ENSP00000260184.7:p.Arg545Trp
ENST00000505863.1:c.817C>T ENSP00000421026.1:p.Arg273Trp
ENST00000505890.5:c.1633C>T ENSP00000422202.1:p.Arg545Trp
ENST00000511577.5:c.1633C>T ENSP00000422423.1:p.Arg545Trp
XM_005263341.3:c.1633C>T XP_005263398.2:p.Arg545Trp
XM_005263341.4:c.1633C>T XP_005263398.2:p.Arg545Trp
XM_005263342.2:c.1633C>T XP_005263399.2:p.Arg545Trp
XM_005263343.2:c.1633C>T XP_005263400.2:p.Arg545Trp
XM_005263345.3:c.1633C>T XP_005263402.2:p.Arg545Trp
XM_005263345.4:c.1633C>T XP_005263402.2:p.Arg545Trp
XM_006714408.2:c.1633C>T XP_006714471.1:p.Arg545Trp
XM_011532402.1:c.1633C>T XP_011530704.1:p.Arg545Trp
XM_011532402.2:c.1633C>T XP_011530704.1:p.Arg545Trp
XM_011532403.1:c.1633C>T XP_011530705.1:p.Arg545Trp
XM_011532403.2:c.1633C>T XP_011530705.1:p.Arg545Trp
XM_011532404.1:c.1633C>T XP_011530706.1:p.Arg545Trp
XM_011532405.1:c.1633C>T XP_011530707.1:p.Arg545Trp
XM_011532406.1:c.1633C>T XP_011530708.1:p.Arg545Trp
XM_011532407.1:c.808C>T XP_011530709.1:p.Arg270Trp
XM_011532409.1:c.-96C>T XP_011530711.1:n.-96C>T
XM_011532409.3:c.-96C>T XP_011530711.1:n.-96C>T
XM_017008829.1:c.1633C>T XP_016864318.1:p.Arg545Trp
XM_017008830.1:c.1633C>T XP_016864319.1:p.Arg545Trp
XM_017008831.1:c.-349C>T XP_016864320.1:n.-349C>T
XR_938792.1:n.1881C>T