Canonical Allele Identifier: CA16043211
Gene: OCRL HGNC NCBI

Linked Data

ClinVar Variation Id: 373191
ClinVar RCV Id: RCV000412922
dbSNP Id: rs1057518276
MyVariant Identifiers: chrX:g.128696643A>G (hg19) chrX:g.129562666A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129562666A>G , CM000685.2:g.129562666A>G GRCh38
NC_000023.10:g.128696643A>G , CM000685.1:g.128696643A>G GRCh37
NC_000023.9:g.128524324A>G NCBI36
NG_008638.1:g.27392A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691455.1:c.*1416A>G ENSP00000510265.1:n.*1416A>G
ENST00000693473.1:c.1241A>G
ENST00000371113.9:c.1124A>G MANE Select ENSP00000360154.4:p.His375Arg
ENST00000646010.1:c.1172A>G
ENST00000646914.1:c.235A>G
ENST00000647245.1:c.775A>G
ENST00000357121.5:c.1124A>G ENSP00000349635.5:p.His375Arg
ENST00000371113.8:c.1124A>G ENSP00000360154.4:p.His375Arg
NM_000276.3:c.1124A>G NP_000267.2:p.His375Arg
NM_001587.3:c.1124A>G NP_001578.2:p.His375Arg
XM_005262422.1:c.653A>G XP_005262479.1:p.His218Arg
XM_011531342.1:c.1127A>G XP_011529644.1:p.His376Arg
XM_011531343.1:c.1127A>G XP_011529645.1:p.His376Arg
XM_011531344.1:c.980A>G XP_011529646.1:p.His327Arg
XM_011531345.1:c.980A>G XP_011529647.1:p.His327Arg
XM_011531346.1:c.1127A>G XP_011529648.1:p.His376Arg
NM_001318784.1:c.1127A>G NP_001305713.1:p.His376Arg
XM_005262422.2:c.653A>G XP_005262479.1:p.His218Arg
XM_011531344.3:c.980A>G XP_011529646.1:p.His327Arg
XM_011531345.3:c.980A>G XP_011529647.1:p.His327Arg
XM_017029554.1:c.1124A>G XP_016885043.1:p.His375Arg
NM_000276.4:c.1124A>G MANE Select NP_000267.2:p.His375Arg
NM_001318784.2:c.1127A>G NP_001305713.1:p.His376Arg
NM_001587.4:c.1124A>G NP_001578.2:p.His375Arg
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