Canonical Allele Identifier: CA8949023
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 466249
dbSNP Id: rs148641800

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45912308C>T , CM000680.2:g.45912308C>T GRCh38
NC_000018.9:g.43492273C>T , CM000680.1:g.43492273C>T GRCh37
NC_000018.8:g.41746271C>T NCBI36
NG_042838.1:g.60032G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000586655.2:n.2149G>A
ENST00000587884.2:c.3965G>A ENSP00000466990.2:p.Arg1322His
ENST00000590884.6:c.3965G>A ENSP00000466403.2:p.Arg1322His
ENST00000592272.6:c.3965G>A ENSP00000467464.2:p.Arg1322His
ENST00000696482.1:c.3705G>A ENSP00000512656.1:n.3705G>A
ENST00000696483.1:c.3965G>A ENSP00000512657.1:p.Arg1322His
ENST00000696484.1:c.3965G>A ENSP00000512658.1:p.Arg1322His
ENST00000696485.1:c.3965G>A ENSP00000512659.1:p.Arg1322His
ENST00000696489.1:c.3965G>A ENSP00000512660.1:p.Arg1322His
ENST00000696490.1:c.3965G>A ENSP00000512661.1:p.Arg1322His
ENST00000282041.11:c.3965G>A MANE Select ENSP00000282041.4:p.Arg1322His
ENST00000282041.9:c.3965G>A ENSP00000282041.4:p.Arg1322His
ENST00000585906.5:n.744G>A
ENST00000587884.1:c.590G>A ENSP00000466990.1:p.Arg197His
ENST00000587974.1:n.4000G>A
ENST00000590884.5:c.590G>A ENSP00000466403.1:p.Arg197His
ENST00000592272.5:c.590G>A ENSP00000467464.1:p.Arg197His
NM_020964.2:c.3965G>A NP_066015.2:p.Arg1322His
XM_011526120.1:c.3965G>A XP_011524422.1:p.Arg1322His
XM_011526121.1:c.3965G>A XP_011524423.1:p.Arg1322His
XM_011526122.1:c.3965G>A XP_011524424.1:p.Arg1322His
XM_011526123.1:c.3965G>A XP_011524425.1:p.Arg1322His
XM_011526124.1:c.3965G>A XP_011524426.1:p.Arg1322His
XM_011526125.1:c.3824G>A XP_011524427.1:p.Arg1275His
XM_011526126.1:c.2900G>A XP_011524428.1:p.Arg967His
XM_011526127.1:c.3965G>A XP_011524429.1:p.Arg1322His
XM_011526128.1:c.3965G>A XP_011524430.1:p.Arg1322His
XR_935244.1:n.4065G>A
NM_020964.3:c.3965G>A MANE Select NP_066015.2:p.Arg1322His
XM_017025889.1:c.3965G>A XP_016881378.1:p.Arg1322His
XM_017025890.2:c.3965G>A XP_016881379.1:p.Arg1322His
XM_017025891.1:c.3824G>A XP_016881380.1:p.Arg1275His
XM_017025892.1:c.2900G>A XP_016881381.1:p.Arg967His
XM_017025893.1:c.590G>A XP_016881382.1:p.Arg197His
XR_001753256.1:n.4047G>A
XR_001753257.1:n.4047G>A