Canonical Allele Identifier: CA224711
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 11012
ClinVar RCV Id: RCV000011759 RCV000083513
dbSNP Id: rs72558412
MyVariant Identifiers: chrX:g.38262947T>G (hg19) chrX:g.38403694T>G (hg38)
PubMed: PMID:10405441 PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403694T>G , CM000685.2:g.38403694T>G GRCh38
NC_000023.10:g.38262947T>G , CM000685.1:g.38262947T>G GRCh37
NC_000023.9:g.38147891T>G NCBI36
NG_008471.1:g.56212T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.617T>G MANE Select ENSP00000039007.4:p.Met206Arg
ENST00000643344.1:c.*367T>G ENSP00000496606.1:n.*367T>G
ENST00000039007.4:c.617T>G ENSP00000039007.4:p.Met206Arg
ENST00000465127.1:c.172-262427T>G ENSP00000417050.1:n.172-262427T>G
NM_000531.5:c.617T>G NP_000522.3:p.Met206Arg
XM_017029556.1:c.617T>G XP_016885045.1:p.Met206Arg
NM_000531.6:c.617T>G MANE Select NP_000522.3:p.Met206Arg
Search 100 bp 5'
Search 100 bp 3'