Canonical Allele Identifier: CA238577

Gene: OCRL

Linked Data

• ClinVar Variation Id: 193072
• ClinVar RCV Id: RCV000173095 ; RCV002054037 ; RCV003150965 ; RCV003947458
• dbSNP Id: rs765141317
• ExAC: X:128674465 G / A
• gnomAD v2: X-128674465-G-A
• gnomAD v3: X-129540488-G-A
• gnomAD v4: X-129540488-G-A
• MyVariant Identifiers: chrX:g.128674465G>A (hg19) ; chrX:g.129540488G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129540488G>A , CM000685.2:g.129540488G>A	GRCh38
NC_000023.10:g.128674465G>A , CM000685.1:g.128674465G>A	GRCh37
NC_000023.9:g.128502146G>A	NCBI36
NG_008638.1:g.5214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.39+10G>A	ENSP00000510265.1:n.39+10G>A
ENST00000371113.9:c.39+10G>A MANE Select	ENSP00000360154.4:n.39+10G>A
ENST00000357121.5:c.39+10G>A	ENSP00000349635.5:n.39+10G>A
ENST00000371113.8:c.39+10G>A	ENSP00000360154.4:n.39+10G>A
ENST00000486673.1:n.91+549G>A
NM_000276.3:c.39+10G>A	NP_000267.2:n.39+10G>A
NM_001587.3:c.39+10G>A	NP_001578.2:n.39+10G>A
XM_005262422.1:c.-353+549G>A	XP_005262479.1:n.-353+549G>A
XM_011531342.1:c.39+10G>A	XP_011529644.1:n.39+10G>A
XM_011531343.1:c.39+10G>A	XP_011529645.1:n.39+10G>A
XM_011531344.1:c.-146-4470G>A	XP_011529646.1:n.-146-4470G>A
XM_011531345.1:c.-147+549G>A	XP_011529647.1:n.-147+549G>A
XM_011531346.1:c.39+10G>A	XP_011529648.1:n.39+10G>A
NM_001318784.1:c.39+10G>A	NP_001305713.1:n.39+10G>A
XM_005262422.2:c.-353+549G>A	XP_005262479.1:n.-353+549G>A
XM_011531344.3:c.-146-4470G>A	XP_011529646.1:n.-146-4470G>A
XM_011531345.3:c.-147+549G>A	XP_011529647.1:n.-147+549G>A
XM_017029554.1:c.39+10G>A	XP_016885043.1:n.39+10G>A
NM_000276.4:c.39+10G>A MANE Select	NP_000267.2:n.39+10G>A
NM_001318784.2:c.39+10G>A	NP_001305713.1:n.39+10G>A
NM_001587.4:c.39+10G>A	NP_001578.2:n.39+10G>A