Canonical Allele Identifier: CA360066794
Gene: OCLN HGNC NCBI

Linked Data

dbSNP Id: rs1392356550
gnomAD v3: 5-69534797-A-G
gnomAD v4: 5-69534797-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69534797A>G , CM000667.2:g.69534797A>G GRCh38
NC_000005.9:g.68830624A>G , CM000667.1:g.68830624A>G GRCh37
NC_000005.8:g.68866380A>G NCBI36
NG_028291.1:g.47506A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396442.7:c.995A>G MANE Select ENSP00000379719.2:p.Asn332Ser
ENST00000680027.1:c.995A>G ENSP00000506162.1:p.Asn332Ser
ENST00000680496.1:c.833A>G ENSP00000504966.1:p.Asn278Ser
ENST00000680784.1:c.833A>G ENSP00000506305.1:p.Asn278Ser
ENST00000681041.1:c.995A>G ENSP00000505426.1:p.Asn332Ser
ENST00000681586.1:c.995A>G ENSP00000505541.1:p.Asn332Ser
ENST00000681588.1:c.*171A>G ENSP00000506017.1:n.*171A>G
ENST00000681895.1:c.995A>G ENSP00000505831.1:p.Asn332Ser
ENST00000355237.6:c.995A>G ENSP00000347379.2:p.Asn332Ser
ENST00000396442.6:c.995A>G ENSP00000379719.2:p.Asn332Ser
ENST00000538151.2:c.242A>G ENSP00000445940.1:p.Asn81Ser
NM_001205254.1:c.995A>G NP_001192183.1:p.Asn332Ser
NM_001205255.1:c.242A>G NP_001192184.1:p.Asn81Ser
NM_002538.3:c.995A>G NP_002529.1:p.Asn332Ser
XM_017008913.2:c.833A>G XP_016864402.1:p.Asn278Ser
XM_017008914.2:c.833A>G XP_016864403.1:p.Asn278Ser
NM_001205254.2:c.995A>G MANE Select NP_001192183.1:p.Asn332Ser
NM_002538.4:c.995A>G NP_002529.1:p.Asn332Ser