Canonical Allele Identifier: CA444855093
Gene: OCLN HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.68830577G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69534750G>A , CM000667.2:g.69534750G>A GRCh38
NC_000005.9:g.68830577G>A , CM000667.1:g.68830577G>A GRCh37
NC_000005.8:g.68866333G>A NCBI36
NG_028291.1:g.47459G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396442.7:c.948G>A MANE Select ENSP00000379719.2:p.Val316=
ENST00000680027.1:c.948G>A ENSP00000506162.1:p.Val316=
ENST00000680496.1:c.786G>A ENSP00000504966.1:p.Val262=
ENST00000680784.1:c.786G>A ENSP00000506305.1:p.Val262=
ENST00000681041.1:c.948G>A ENSP00000505426.1:p.Val316=
ENST00000681586.1:c.948G>A ENSP00000505541.1:p.Val316=
ENST00000681588.1:c.*124G>A ENSP00000506017.1:n.*124G>A
ENST00000681895.1:c.948G>A ENSP00000505831.1:p.Val316=
ENST00000355237.6:c.948G>A ENSP00000347379.2:p.Val316=
ENST00000396442.6:c.948G>A ENSP00000379719.2:p.Val316=
ENST00000538151.2:c.195G>A ENSP00000445940.1:p.Val65=
NM_001205254.1:c.948G>A NP_001192183.1:p.Val316=
NM_001205255.1:c.195G>A NP_001192184.1:p.Val65=
NM_002538.3:c.948G>A NP_002529.1:p.Val316=
XM_017008913.2:c.786G>A XP_016864402.1:p.Val262=
XM_017008914.2:c.786G>A XP_016864403.1:p.Val262=
NM_001205254.2:c.948G>A MANE Select NP_001192183.1:p.Val316=
NM_002538.4:c.948G>A NP_002529.1:p.Val316=