Canonical Allele Identifier: CA2300578854
Community Standard Title: NM_020964.3(EPG5):c.5404G= (p.Glu1802=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882388C= , CM000680.2:g.45882388C= GRCh38
NC_000018.9:g.43462353C= , CM000680.1:g.43462353C= GRCh37
NC_000018.8:g.41716351C= NCBI36
NG_042838.1:g.89952G=

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5404G= MANE Select NP_066015.2:p.Glu1802=
ENST00000282041.11:c.5404G= MANE Select ENSP00000282041.4:p.Glu1802=
NM_020964.2:c.5404G= NP_066015.2:p.Glu1802=
ENST00000282041.9:c.5404G= ENSP00000282041.4:p.Glu1802=
ENST00000585906.5:n.2183G=
ENST00000586655.2:n.3665G=
ENST00000587884.1:c.*1144G= ENSP00000466990.1:n.*1144G=
ENST00000587884.2:c.5530G= ENSP00000466990.2:n.5530G=
ENST00000587973.2:n.1269G=
ENST00000590884.5:c.1973G= ENSP00000466403.1:p.Ter658=
ENST00000590884.6:c.5348G= ENSP00000466403.2:p.Ter1783=
ENST00000592272.5:c.2029G= ENSP00000467464.1:p.Glu677=
ENST00000592272.6:c.5404G= ENSP00000467464.2:p.Glu1802=
ENST00000696481.1:n.2036G=
ENST00000696482.1:c.5144G= ENSP00000512656.1:n.5144G=
ENST00000696483.1:c.5404G= ENSP00000512657.1:p.Glu1802=
ENST00000696484.1:c.5404G= ENSP00000512658.1:p.Glu1802=
ENST00000696485.1:c.5348G= ENSP00000512659.1:p.Ter1783=
ENST00000696489.1:c.5404G= ENSP00000512660.1:p.Glu1802=
ENST00000696490.1:c.5404G= ENSP00000512661.1:p.Glu1802=
XM_011526120.1:c.5431G= XP_011524422.1:p.Glu1811=
XM_011526121.1:c.5431G= XP_011524423.1:p.Glu1811=
XM_011526122.1:c.5404G= XP_011524424.1:p.Glu1802=
XM_011526123.1:c.5431G= XP_011524425.1:p.Glu1811=
XM_011526124.1:c.5431G= XP_011524426.1:p.Glu1811=
XM_011526125.1:c.5290G= XP_011524427.1:p.Glu1764=
XM_011526126.1:c.4366G= XP_011524428.1:p.Glu1456=
XM_011526127.1:c.5431G= XP_011524429.1:p.Glu1811=
XM_011526128.1:c.5375G= XP_011524430.1:p.Ter1792=
XM_017025889.1:c.5404G= XP_016881378.1:p.Glu1802=
XM_017025890.2:c.5404G= XP_016881379.1:p.Glu1802=
XM_017025891.1:c.5263G= XP_016881380.1:p.Glu1755=
XM_017025892.1:c.4339G= XP_016881381.1:p.Glu1447=
XM_017025893.1:c.2029G= XP_016881382.1:p.Glu677=
XR_001753256.1:n.5486G=
XR_001753257.1:n.5430G=
XR_935244.1:n.5504G=