Canonical Allele Identifier: CA208426
Gene: OCRL HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.129557953A>G
GRCh37 chrX:g.128691930A>G
gnomAD v2:
X:128691930 A / G
gnomAD v3:
X:129557953 A / G
gnomAD v4:
chrX-129557953-A-G
Joint Max Group AF 0.0038443 (NFE)
Genomes Max Group AF 0.003295 (NFE)
Exomes Max Group AF 0.00385658 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129557953A>G , CM000685.2:g.129557953A>G GRCh38
NC_000023.10:g.128691930A>G , CM000685.1:g.128691930A>G GRCh37
NC_000023.9:g.128519611A>G NCBI36
NG_008638.1:g.22679A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000689093.1:c.1516+3A>G
ENST00000691455.1:c.*731+3A>G ENSP00000510265.1:n.*731+3A>G
ENST00000693473.1:c.556+3A>G
ENST00000371113.9:c.439+3A>G MANE Select ENSP00000360154.4:n.439+3A>G
ENST00000646010.1:c.487+3A>G
ENST00000647245.1:c.90+3A>G
ENST00000357121.5:c.439+3A>G ENSP00000349635.5:n.439+3A>G
ENST00000371113.8:c.439+3A>G ENSP00000360154.4:n.439+3A>G
ENST00000486673.1:n.681+3A>G
NM_000276.3:c.439+3A>G NP_000267.2:n.439+3A>G
NM_001587.3:c.439+3A>G NP_001578.2:n.439+3A>G
XM_005262422.1:c.-33+3A>G XP_005262479.1:n.-33+3A>G
XM_011531342.1:c.442+3A>G XP_011529644.1:n.442+3A>G
XM_011531343.1:c.442+3A>G XP_011529645.1:n.442+3A>G
XM_011531344.1:c.295+3A>G XP_011529646.1:n.295+3A>G
XM_011531345.1:c.295+3A>G XP_011529647.1:n.295+3A>G
XM_011531346.1:c.442+3A>G XP_011529648.1:n.442+3A>G
NM_001318784.1:c.442+3A>G NP_001305713.1:n.442+3A>G
XM_005262422.2:c.-33+3A>G XP_005262479.1:n.-33+3A>G
XM_011531344.3:c.295+3A>G XP_011529646.1:n.295+3A>G
XM_011531345.3:c.295+3A>G XP_011529647.1:n.295+3A>G
XM_017029554.1:c.439+3A>G XP_016885043.1:n.439+3A>G
NM_000276.4:c.439+3A>G MANE Select NP_000267.2:n.439+3A>G
NM_001318784.2:c.442+3A>G NP_001305713.1:n.442+3A>G
NM_001587.4:c.439+3A>G NP_001578.2:n.439+3A>G
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