Canonical Allele Identifier: CA224498
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97132
ClinVar RCV Id: RCV000083361
dbSNP Id: rs72554325
MyVariant Identifiers: chrX:g.38226666T>G (hg19) chrX:g.38367413T>G (hg38)
PubMed: PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367413T>G , CM000685.2:g.38367413T>G GRCh38
NC_000023.10:g.38226666T>G , CM000685.1:g.38226666T>G GRCh37
NC_000023.9:g.38111610T>G NCBI36
NG_008471.1:g.19931T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.200T>G MANE Select ENSP00000039007.4:p.Ile67Arg
ENST00000643344.1:c.200T>G ENSP00000496606.1:p.Ile67Arg
ENST00000039007.4:c.200T>G ENSP00000039007.4:p.Ile67Arg
ENST00000465127.1:c.172-298708T>G ENSP00000417050.1:n.172-298708T>G
ENST00000488812.1:n.292T>G
NM_000531.5:c.200T>G NP_000522.3:p.Ile67Arg
XM_017029556.1:c.200T>G XP_016885045.1:p.Ile67Arg
NM_000531.6:c.200T>G MANE Select NP_000522.3:p.Ile67Arg
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