Canonical Allele Identifier: CA2300578885
Community Standard Title: NM_020964.3(EPG5):c.5319A= (p.Gln1773=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882473T= , CM000680.2:g.45882473T= GRCh38
NC_000018.9:g.43462438T= , CM000680.1:g.43462438T= GRCh37
NC_000018.8:g.41716436T= NCBI36
NG_042838.1:g.89867A=

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5319A= MANE Select NP_066015.2:p.Gln1773=
ENST00000282041.11:c.5319A= MANE Select ENSP00000282041.4:p.Gln1773=
NM_020964.2:c.5319A= NP_066015.2:p.Gln1773=
ENST00000282041.9:c.5319A= ENSP00000282041.4:p.Gln1773=
ENST00000585906.5:n.2098A=
ENST00000586655.2:n.3622-42A=
ENST00000587884.1:c.*1059A= ENSP00000466990.1:n.*1059A=
ENST00000587884.2:c.5445A= ENSP00000466990.2:n.5445A=
ENST00000587973.2:n.1184A=
ENST00000590884.5:c.1930-42A= ENSP00000466403.1:n.1930-42A=
ENST00000590884.6:c.5305-42A= ENSP00000466403.2:n.5305-42A=
ENST00000592272.5:c.1944A= ENSP00000467464.1:p.Gln648=
ENST00000592272.6:c.5319A= ENSP00000467464.2:p.Gln1773=
ENST00000696481.1:n.1951A=
ENST00000696482.1:c.5059A= ENSP00000512656.1:n.5059A=
ENST00000696483.1:c.5319A= ENSP00000512657.1:p.Gln1773=
ENST00000696484.1:c.5319A= ENSP00000512658.1:p.Gln1773=
ENST00000696485.1:c.5305-42A= ENSP00000512659.1:n.5305-42A=
ENST00000696489.1:c.5319A= ENSP00000512660.1:p.Gln1773=
ENST00000696490.1:c.5319A= ENSP00000512661.1:p.Gln1773=
XM_011526120.1:c.5346A= XP_011524422.1:p.Gln1782=
XM_011526121.1:c.5346A= XP_011524423.1:p.Gln1782=
XM_011526122.1:c.5319A= XP_011524424.1:p.Gln1773=
XM_011526123.1:c.5346A= XP_011524425.1:p.Gln1782=
XM_011526124.1:c.5346A= XP_011524426.1:p.Gln1782=
XM_011526125.1:c.5205A= XP_011524427.1:p.Gln1735=
XM_011526126.1:c.4281A= XP_011524428.1:p.Gln1427=
XM_011526127.1:c.5346A= XP_011524429.1:p.Gln1782=
XM_011526128.1:c.5332-42A= XP_011524430.1:n.5332-42A=
XM_017025889.1:c.5319A= XP_016881378.1:p.Gln1773=
XM_017025890.2:c.5319A= XP_016881379.1:p.Gln1773=
XM_017025891.1:c.5178A= XP_016881380.1:p.Gln1726=
XM_017025892.1:c.4254A= XP_016881381.1:p.Gln1418=
XM_017025893.1:c.1944A= XP_016881382.1:p.Gln648=
XR_001753256.1:n.5401A=
XR_001753257.1:n.5387-42A=
XR_935244.1:n.5419A=