Canonical Allele Identifier: CA16605379
Gene: OCLN HGNC NCBI

Linked Data

ClinVar Variation Id: 387208
ClinVar RCV Id: RCV000431807
dbSNP Id: rs571200988
gnomAD v2: 5-68788480-G-A
gnomAD v3: 5-69492653-G-A
gnomAD v4: 5-69492653-G-A
MyVariant Identifiers: chr5:g.68788480G>A (hg19) chr5:g.69492653G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69492653G>A , CM000667.2:g.69492653G>A GRCh38
NC_000005.9:g.68788480G>A , CM000667.1:g.68788480G>A GRCh37
NC_000005.8:g.68824236G>A NCBI36
NG_028291.1:g.5362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355237.6:c.-75G>A ENSP00000347379.2:n.-75G>A
NM_002538.3:c.-75G>A NP_002529.1:n.-75G>A
XM_017008914.2:c.-75G>A XP_016864403.1:n.-75G>A
NM_002538.4:c.-75G>A NP_002529.1:n.-75G>A
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