Canonical Allele Identifier: CA360066597
Gene: OCLN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69534752A>T , CM000667.2:g.69534752A>T GRCh38
NC_000005.9:g.68830579A>T , CM000667.1:g.68830579A>T GRCh37
NC_000005.8:g.68866335A>T NCBI36
NG_028291.1:g.47461A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396442.7:c.950A>T MANE Select ENSP00000379719.2:p.Glu317Val
ENST00000680027.1:c.950A>T ENSP00000506162.1:p.Glu317Val
ENST00000680496.1:c.788A>T ENSP00000504966.1:p.Glu263Val
ENST00000680784.1:c.788A>T ENSP00000506305.1:p.Glu263Val
ENST00000681041.1:c.950A>T ENSP00000505426.1:p.Glu317Val
ENST00000681586.1:c.950A>T ENSP00000505541.1:p.Glu317Val
ENST00000681588.1:c.*126A>T ENSP00000506017.1:n.*126A>T
ENST00000681895.1:c.950A>T ENSP00000505831.1:p.Glu317Val
ENST00000355237.6:c.950A>T ENSP00000347379.2:p.Glu317Val
ENST00000396442.6:c.950A>T ENSP00000379719.2:p.Glu317Val
ENST00000538151.2:c.197A>T ENSP00000445940.1:p.Glu66Val
NM_001205254.1:c.950A>T NP_001192183.1:p.Glu317Val
NM_001205255.1:c.197A>T NP_001192184.1:p.Glu66Val
NM_002538.3:c.950A>T NP_002529.1:p.Glu317Val
XM_017008913.2:c.788A>T XP_016864402.1:p.Glu263Val
XM_017008914.2:c.788A>T XP_016864403.1:p.Glu263Val
NM_001205254.2:c.950A>T MANE Select NP_001192183.1:p.Glu317Val
NM_002538.4:c.950A>T NP_002529.1:p.Glu317Val