Canonical Allele Identifier: CA224712
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97271
ClinVar RCV Id: RCV000083514
dbSNP Id: rs72558413
MyVariant Identifiers: chrX:g.38262948G>C (hg19) chrX:g.38403695G>C (hg38)
PubMed: PMID:11793483
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403695G>C , CM000685.2:g.38403695G>C GRCh38
NC_000023.10:g.38262948G>C , CM000685.1:g.38262948G>C GRCh37
NC_000023.9:g.38147892G>C NCBI36
NG_008471.1:g.56213G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.618G>C MANE Select ENSP00000039007.4:p.Met206Ile
ENST00000643344.1:c.*368G>C ENSP00000496606.1:n.*368G>C
ENST00000039007.4:c.618G>C ENSP00000039007.4:p.Met206Ile
ENST00000465127.1:c.172-262426G>C ENSP00000417050.1:n.172-262426G>C
NM_000531.5:c.618G>C NP_000522.3:p.Met206Ile
XM_017029556.1:c.618G>C XP_016885045.1:p.Met206Ile
NM_000531.6:c.618G>C MANE Select NP_000522.3:p.Met206Ile
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