Canonical Allele Identifier: CA213344
Gene: OCLN HGNC NCBI

Linked Data

ClinVar Variation Id: 211774
ClinVar RCV Id: RCV000194654
dbSNP Id: rs797045840
MyVariant Identifiers: chr5:g.68830671G>A (hg19) chr5:g.69534844G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69534844G>A , CM000667.2:g.69534844G>A GRCh38
NC_000005.9:g.68830671G>A , CM000667.1:g.68830671G>A GRCh37
NC_000005.8:g.68866427G>A NCBI36
NG_028291.1:g.47553G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396442.7:c.1037+5G>A MANE Select ENSP00000379719.2:n.1037+5G>A
ENST00000680027.1:c.1037+5G>A ENSP00000506162.1:n.1037+5G>A
ENST00000680496.1:c.875+5G>A ENSP00000504966.1:n.875+5G>A
ENST00000680784.1:c.875+5G>A ENSP00000506305.1:n.875+5G>A
ENST00000681041.1:c.1037+5G>A ENSP00000505426.1:n.1037+5G>A
ENST00000681586.1:c.1037+5G>A ENSP00000505541.1:n.1037+5G>A
ENST00000681588.1:c.*213+5G>A ENSP00000506017.1:n.*213+5G>A
ENST00000681895.1:c.1037+5G>A ENSP00000505831.1:n.1037+5G>A
ENST00000355237.6:c.1037+5G>A ENSP00000347379.2:n.1037+5G>A
ENST00000396442.6:c.1037+5G>A ENSP00000379719.2:n.1037+5G>A
ENST00000538151.2:c.284+5G>A ENSP00000445940.1:n.284+5G>A
NM_001205254.1:c.1037+5G>A NP_001192183.1:n.1037+5G>A
NM_001205255.1:c.284+5G>A NP_001192184.1:n.284+5G>A
NM_002538.3:c.1037+5G>A NP_002529.1:n.1037+5G>A
XM_017008913.2:c.875+5G>A XP_016864402.1:n.875+5G>A
XM_017008914.2:c.875+5G>A XP_016864403.1:n.875+5G>A
NM_001205254.2:c.1037+5G>A MANE Select NP_001192183.1:n.1037+5G>A
NM_002538.4:c.1037+5G>A NP_002529.1:n.1037+5G>A
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