Canonical Allele Identifier: CA3294551

Gene: OCLN

Linked Data

• dbSNP Id: rs760747460
• ExAC: 5:68830578 G / A
• gnomAD v2: 5-68830578-G-A
• gnomAD v4: 5-69534751-G-A
• MyVariant Identifiers: chr5:g.68830578G>A (hg19) ; chr5:g.69534751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69534751G>A , CM000667.2:g.69534751G>A	GRCh38
NC_000005.9:g.68830578G>A , CM000667.1:g.68830578G>A	GRCh37
NC_000005.8:g.68866334G>A	NCBI36
NG_028291.1:g.47460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396442.7:c.949G>A MANE Select	ENSP00000379719.2:p.Glu317Lys
ENST00000680027.1:c.949G>A	ENSP00000506162.1:p.Glu317Lys
ENST00000680496.1:c.787G>A	ENSP00000504966.1:p.Glu263Lys
ENST00000680784.1:c.787G>A	ENSP00000506305.1:p.Glu263Lys
ENST00000681041.1:c.949G>A	ENSP00000505426.1:p.Glu317Lys
ENST00000681586.1:c.949G>A	ENSP00000505541.1:p.Glu317Lys
ENST00000681588.1:c.*125G>A	ENSP00000506017.1:n.*125G>A
ENST00000681895.1:c.949G>A	ENSP00000505831.1:p.Glu317Lys
ENST00000355237.6:c.949G>A	ENSP00000347379.2:p.Glu317Lys
ENST00000396442.6:c.949G>A	ENSP00000379719.2:p.Glu317Lys
ENST00000538151.2:c.196G>A	ENSP00000445940.1:p.Glu66Lys
NM_001205254.1:c.949G>A	NP_001192183.1:p.Glu317Lys
NM_001205255.1:c.196G>A	NP_001192184.1:p.Glu66Lys
NM_002538.3:c.949G>A	NP_002529.1:p.Glu317Lys
XM_017008913.2:c.787G>A	XP_016864402.1:p.Glu263Lys
XM_017008914.2:c.787G>A	XP_016864403.1:p.Glu263Lys
NM_001205254.2:c.949G>A MANE Select	NP_001192183.1:p.Glu317Lys
NM_002538.4:c.949G>A	NP_002529.1:p.Glu317Lys