Canonical Allele Identifier: CA9289356

Gene: OCEL1

Linked Data

• ClinVar Variation Id: 777294
• ClinVar RCV Id: RCV000957740
• dbSNP Id: rs116350920
• ExAC: 19:17337802 G / C
• gnomAD v2: 19-17337802-G-C
• gnomAD v3: 19-17226993-G-C
• gnomAD v4: 19-17226993-G-C
• MyVariant Identifiers: chr19:g.17337802G>C (hg19) ; chr19:g.17226993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17226993G>C , CM000681.2:g.17226993G>C	GRCh38
NC_000019.9:g.17337802G>C , CM000681.1:g.17337802G>C	GRCh37
NC_000019.8:g.17198802G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215061.9:c.247-1G>C MANE Select	ENSP00000215061.3:n.247-1G>C
ENST00000215061.8:c.247-1G>C	ENSP00000215061.3:n.247-1G>C
ENST00000594283.5:n.375G>C
ENST00000596279.1:n.212G>C
ENST00000597836.5:c.79-1G>C	ENSP00000470270.1:n.79-1G>C
ENST00000598068.5:c.131-1G>C
ENST00000598172.1:c.32-1G>C
ENST00000599588.5:n.392G>C
ENST00000600232.5:c.242-1G>C
ENST00000601529.5:c.247-1G>C	ENSP00000471201.1:n.247-1G>C
ENST00000601576.1:n.328G>C
ENST00000602236.5:n.319-1G>C
NM_024578.2:c.247-1G>C	NP_078854.1:n.247-1G>C
XM_005260079.2:c.79-1G>C	XP_005260136.1:n.79-1G>C
XM_006722899.2:c.247-1G>C	XP_006722962.1:n.247-1G>C
XM_006722899.4:c.247-1G>C	XP_006722962.1:n.247-1G>C
XM_017027306.1:c.79-1G>C	XP_016882795.1:n.79-1G>C
NM_024578.3:c.247-1G>C MANE Select	NP_078854.1:n.247-1G>C