Canonical Allele Identifier: CA2300590866
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45910589C= , CM000680.2:g.45910589C= GRCh38
NC_000018.9:g.43490554C= , CM000680.1:g.43490554C= GRCh37
NC_000018.8:g.41744552C= NCBI36
NG_042838.1:g.61751G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000586655.2:n.2321G=
ENST00000587884.2:c.4137G= ENSP00000466990.2:p.Gly1379=
ENST00000590884.6:c.4137G= ENSP00000466403.2:p.Gly1379=
ENST00000592272.6:c.4137G= ENSP00000467464.2:p.Gly1379=
ENST00000696482.1:c.3877G= ENSP00000512656.1:n.3877G=
ENST00000696483.1:c.4137G= ENSP00000512657.1:p.Gly1379=
ENST00000696484.1:c.4137G= ENSP00000512658.1:p.Gly1379=
ENST00000696485.1:c.4137G= ENSP00000512659.1:p.Gly1379=
ENST00000696489.1:c.4137G= ENSP00000512660.1:p.Gly1379=
ENST00000696490.1:c.4137G= ENSP00000512661.1:p.Gly1379=
ENST00000282041.11:c.4137G= MANE Select ENSP00000282041.4:p.Gly1379=
ENST00000282041.9:c.4137G= ENSP00000282041.4:p.Gly1379=
ENST00000585906.5:n.916G=
ENST00000587884.1:c.762G= ENSP00000466990.1:p.Gly254=
ENST00000587974.1:n.4172G=
ENST00000590884.5:c.762G= ENSP00000466403.1:p.Gly254=
ENST00000592272.5:c.762G= ENSP00000467464.1:p.Gly254=
NM_020964.2:c.4137G= NP_066015.2:p.Gly1379=
XM_011526120.1:c.4164G= XP_011524422.1:p.Gly1388=
XM_011526121.1:c.4164G= XP_011524423.1:p.Gly1388=
XM_011526122.1:c.4137G= XP_011524424.1:p.Gly1379=
XM_011526123.1:c.4164G= XP_011524425.1:p.Gly1388=
XM_011526124.1:c.4164G= XP_011524426.1:p.Gly1388=
XM_011526125.1:c.4023G= XP_011524427.1:p.Gly1341=
XM_011526126.1:c.3099G= XP_011524428.1:p.Gly1033=
XM_011526127.1:c.4164G= XP_011524429.1:p.Gly1388=
XM_011526128.1:c.4164G= XP_011524430.1:p.Gly1388=
XR_935244.1:n.4237G=
NM_020964.3:c.4137G= MANE Select NP_066015.2:p.Gly1379=
XM_017025889.1:c.4137G= XP_016881378.1:p.Gly1379=
XM_017025890.2:c.4137G= XP_016881379.1:p.Gly1379=
XM_017025891.1:c.3996G= XP_016881380.1:p.Gly1332=
XM_017025892.1:c.3072G= XP_016881381.1:p.Gly1024=
XM_017025893.1:c.762G= XP_016881382.1:p.Gly254=
XR_001753256.1:n.4219G=
XR_001753257.1:n.4219G=