Canonical Allele Identifier: CA2300578891
Community Standard Title: NM_020964.3(EPG5):c.5307C= (p.Phe1769=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882485G= , CM000680.2:g.45882485G= GRCh38
NC_000018.9:g.43462450G= , CM000680.1:g.43462450G= GRCh37
NC_000018.8:g.41716448G= NCBI36
NG_042838.1:g.89855C=

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5307C= MANE Select NP_066015.2:p.Phe1769=
ENST00000282041.11:c.5307C= MANE Select ENSP00000282041.4:p.Phe1769=
NM_020964.2:c.5307C= NP_066015.2:p.Phe1769=
ENST00000282041.9:c.5307C= ENSP00000282041.4:p.Phe1769=
ENST00000585906.5:n.2086C=
ENST00000586655.2:n.3622-54C=
ENST00000587884.1:c.*1047C= ENSP00000466990.1:n.*1047C=
ENST00000587884.2:c.5433C= ENSP00000466990.2:n.5433C=
ENST00000587973.2:n.1172C=
ENST00000590884.5:c.1930-54C= ENSP00000466403.1:n.1930-54C=
ENST00000590884.6:c.5305-54C= ENSP00000466403.2:n.5305-54C=
ENST00000592272.5:c.1932C= ENSP00000467464.1:p.Phe644=
ENST00000592272.6:c.5307C= ENSP00000467464.2:p.Phe1769=
ENST00000696481.1:n.1939C=
ENST00000696482.1:c.5047C= ENSP00000512656.1:n.5047C=
ENST00000696483.1:c.5307C= ENSP00000512657.1:p.Phe1769=
ENST00000696484.1:c.5307C= ENSP00000512658.1:p.Phe1769=
ENST00000696485.1:c.5305-54C= ENSP00000512659.1:n.5305-54C=
ENST00000696489.1:c.5307C= ENSP00000512660.1:p.Phe1769=
ENST00000696490.1:c.5307C= ENSP00000512661.1:p.Phe1769=
XM_011526120.1:c.5334C= XP_011524422.1:p.Phe1778=
XM_011526121.1:c.5334C= XP_011524423.1:p.Phe1778=
XM_011526122.1:c.5307C= XP_011524424.1:p.Phe1769=
XM_011526123.1:c.5334C= XP_011524425.1:p.Phe1778=
XM_011526124.1:c.5334C= XP_011524426.1:p.Phe1778=
XM_011526125.1:c.5193C= XP_011524427.1:p.Phe1731=
XM_011526126.1:c.4269C= XP_011524428.1:p.Phe1423=
XM_011526127.1:c.5334C= XP_011524429.1:p.Phe1778=
XM_011526128.1:c.5332-54C= XP_011524430.1:n.5332-54C=
XM_017025889.1:c.5307C= XP_016881378.1:p.Phe1769=
XM_017025890.2:c.5307C= XP_016881379.1:p.Phe1769=
XM_017025891.1:c.5166C= XP_016881380.1:p.Phe1722=
XM_017025892.1:c.4242C= XP_016881381.1:p.Phe1414=
XM_017025893.1:c.1932C= XP_016881382.1:p.Phe644=
XR_001753256.1:n.5389C=
XR_001753257.1:n.5387-54C=
XR_935244.1:n.5407C=