Canonical Allele Identifier: CA145977

Gene: OCRL

Linked Data

• ClinVar Variation Id: 92722
• ClinVar RCV Id: RCV000078493 ; RCV001610353 ; RCV001514285
• dbSNP Id: rs5977104
• ExAC: X:128679030 C / G
• gnomAD v2: X-128679030-C-G
• gnomAD v3: X-129545053-C-G
• gnomAD v4: X-129545053-C-G
• MyVariant Identifiers: chrX:g.128679030C>G (hg19) ; chrX:g.129545053C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129545053C>G , CM000685.2:g.129545053C>G	GRCh38
NC_000023.10:g.128679030C>G , CM000685.1:g.128679030C>G	GRCh37
NC_000023.9:g.128506711C>G	NCBI36
NG_008638.1:g.9779C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689093.1:c.65+16C>G
ENST00000691455.1:c.*491+16C>G	ENSP00000510265.1:n.*491+16C>G
ENST00000693473.1:c.156+16C>G
ENST00000371113.9:c.199+16C>G MANE Select	ENSP00000360154.4:n.199+16C>G
ENST00000646010.1:c.156+16C>G
ENST00000357121.5:c.199+16C>G	ENSP00000349635.5:n.199+16C>G
ENST00000371113.8:c.199+16C>G	ENSP00000360154.4:n.199+16C>G
ENST00000486673.1:n.171+16C>G
NM_000276.3:c.199+16C>G	NP_000267.2:n.199+16C>G
NM_001587.3:c.199+16C>G	NP_001578.2:n.199+16C>G
XM_005262422.1:c.-273+16C>G	XP_005262479.1:n.-273+16C>G
XM_011531342.1:c.202+16C>G	XP_011529644.1:n.202+16C>G
XM_011531343.1:c.202+16C>G	XP_011529645.1:n.202+16C>G
XM_011531344.1:c.-67+16C>G	XP_011529646.1:n.-67+16C>G
XM_011531345.1:c.-67+16C>G	XP_011529647.1:n.-67+16C>G
XM_011531346.1:c.202+16C>G	XP_011529648.1:n.202+16C>G
NM_001318784.1:c.202+16C>G	NP_001305713.1:n.202+16C>G
XM_005262422.2:c.-273+16C>G	XP_005262479.1:n.-273+16C>G
XM_011531344.3:c.-67+16C>G	XP_011529646.1:n.-67+16C>G
XM_011531345.3:c.-67+16C>G	XP_011529647.1:n.-67+16C>G
XM_017029554.1:c.199+16C>G	XP_016885043.1:n.199+16C>G
NM_000276.4:c.199+16C>G MANE Select	NP_000267.2:n.199+16C>G
NM_001318784.2:c.202+16C>G	NP_001305713.1:n.202+16C>G
NM_001587.4:c.199+16C>G	NP_001578.2:n.199+16C>G