Canonical Allele Identifier: CA299710945
Community Standard Title: NM_020964.3(EPG5):c.5754A>C (p.Ser1918=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45879128T>G , CM000680.2:g.45879128T>G GRCh38
NC_000018.9:g.43459093T>G , CM000680.1:g.43459093T>G GRCh37
NC_000018.8:g.41713091T>G NCBI36
NG_042838.1:g.93212A>C

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5754A>C MANE Select NP_066015.2:p.Ser1918=
ENST00000282041.11:c.5754A>C MANE Select ENSP00000282041.4:p.Ser1918=
NM_020964.2:c.5754A>C NP_066015.2:p.Ser1918=
ENST00000282041.9:c.5754A>C ENSP00000282041.4:p.Ser1918=
ENST00000585906.5:n.2533A>C
ENST00000586655.2:n.4015A>C
ENST00000587884.1:c.*1494A>C ENSP00000466990.1:n.*1494A>C
ENST00000587884.2:c.5880A>C ENSP00000466990.2:n.5880A>C
ENST00000587973.2:n.1619A>C
ENST00000590884.5:c.*349A>C ENSP00000466403.1:n.*349A>C
ENST00000590884.6:c.5698A>C ENSP00000466403.2:n.5698A>C
ENST00000592272.5:c.2379A>C ENSP00000467464.1:p.Ser793=
ENST00000592272.6:c.5754A>C ENSP00000467464.2:p.Ser1918=
ENST00000696481.1:n.2386A>C
ENST00000696482.1:c.5494A>C ENSP00000512656.1:n.5494A>C
ENST00000696483.1:c.5754A>C ENSP00000512657.1:p.Ser1918=
ENST00000696484.1:c.5754A>C ENSP00000512658.1:p.Ser1918=
ENST00000696485.1:c.*349A>C ENSP00000512659.1:n.*349A>C
ENST00000696489.1:c.5754A>C ENSP00000512660.1:p.Ser1918=
ENST00000696490.1:c.5754A>C ENSP00000512661.1:p.Ser1918=
XM_011526120.1:c.5781A>C XP_011524422.1:p.Ser1927=
XM_011526121.1:c.5781A>C XP_011524423.1:p.Ser1927=
XM_011526122.1:c.5754A>C XP_011524424.1:p.Ser1918=
XM_011526123.1:c.5781A>C XP_011524425.1:p.Ser1927=
XM_011526124.1:c.5781A>C XP_011524426.1:p.Ser1927=
XM_011526125.1:c.5640A>C XP_011524427.1:p.Ser1880=
XM_011526126.1:c.4716A>C XP_011524428.1:p.Ser1572=
XM_011526127.1:c.5781A>C XP_011524429.1:p.Ser1927=
XM_017025889.1:c.5754A>C XP_016881378.1:p.Ser1918=
XM_017025890.2:c.5754A>C XP_016881379.1:p.Ser1918=
XM_017025891.1:c.5613A>C XP_016881380.1:p.Ser1871=
XM_017025892.1:c.4689A>C XP_016881381.1:p.Ser1563=
XM_017025893.1:c.2379A>C XP_016881382.1:p.Ser793=
XR_001753256.1:n.5836A>C
XR_001753257.1:n.5780A>C
XR_935244.1:n.5854A>C