Canonical Allele Identifier: CA503799606
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45879029A>C , CM000680.2:g.45879029A>C GRCh38
NC_000018.9:g.43458994A>C , CM000680.1:g.43458994A>C GRCh37
NC_000018.8:g.41712992A>C NCBI36
NG_042838.1:g.93311T>G

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5853T>G MANE Select NP_066015.2:p.Thr1951=
ENST00000282041.11:c.5853T>G MANE Select ENSP00000282041.4:p.Thr1951=
NM_020964.2:c.5853T>G NP_066015.2:p.Thr1951=
ENST00000282041.9:c.5853T>G ENSP00000282041.4:p.Thr1951=
ENST00000585906.5:n.2632T>G
ENST00000586655.2:n.4114T>G
ENST00000587884.1:c.*1593T>G ENSP00000466990.1:n.*1593T>G
ENST00000587884.2:c.5979T>G ENSP00000466990.2:n.5979T>G
ENST00000587973.2:n.1718T>G
ENST00000590884.5:c.*448T>G ENSP00000466403.1:n.*448T>G
ENST00000590884.6:c.5797T>G ENSP00000466403.2:n.5797T>G
ENST00000592272.5:c.2478T>G ENSP00000467464.1:p.Thr826=
ENST00000592272.6:c.5853T>G ENSP00000467464.2:p.Thr1951=
ENST00000696481.1:n.2485T>G
ENST00000696482.1:c.5593T>G ENSP00000512656.1:n.5593T>G
ENST00000696483.1:c.5853T>G ENSP00000512657.1:p.Thr1951=
ENST00000696484.1:c.5853T>G ENSP00000512658.1:p.Thr1951=
ENST00000696485.1:c.*448T>G ENSP00000512659.1:n.*448T>G
ENST00000696489.1:c.5853T>G ENSP00000512660.1:p.Thr1951=
ENST00000696490.1:c.5853T>G ENSP00000512661.1:p.Thr1951=
XM_011526120.1:c.5880T>G XP_011524422.1:p.Thr1960=
XM_011526121.1:c.5880T>G XP_011524423.1:p.Thr1960=
XM_011526122.1:c.5853T>G XP_011524424.1:p.Thr1951=
XM_011526123.1:c.5880T>G XP_011524425.1:p.Thr1960=
XM_011526124.1:c.5880T>G XP_011524426.1:p.Thr1960=
XM_011526125.1:c.5739T>G XP_011524427.1:p.Thr1913=
XM_011526126.1:c.4815T>G XP_011524428.1:p.Thr1605=
XM_011526127.1:c.5880T>G XP_011524429.1:p.Thr1960=
XM_017025889.1:c.5853T>G XP_016881378.1:p.Thr1951=
XM_017025890.2:c.5853T>G XP_016881379.1:p.Thr1951=
XM_017025891.1:c.5712T>G XP_016881380.1:p.Thr1904=
XM_017025892.1:c.4788T>G XP_016881381.1:p.Thr1596=
XM_017025893.1:c.2478T>G XP_016881382.1:p.Thr826=
XR_001753256.1:n.5935T>G
XR_001753257.1:n.5879T>G
XR_935244.1:n.5953T>G