Canonical Allele Identifier: CA224763
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97305
ClinVar RCV Id: RCV000083551
dbSNP Id: rs72558435
MyVariant Identifiers: chrX:g.38268136C>T (hg19) chrX:g.38408883C>T (hg38)
PubMed: PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408883C>T , CM000685.2:g.38408883C>T GRCh38
NC_000023.10:g.38268136C>T , CM000685.1:g.38268136C>T GRCh37
NC_000023.9:g.38153080C>T NCBI36
NG_008471.1:g.61401C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.725C>T MANE Select ENSP00000039007.4:p.Thr242Ile
ENST00000643344.1:c.*475C>T ENSP00000496606.1:n.*475C>T
ENST00000039007.4:c.725C>T ENSP00000039007.4:p.Thr242Ile
ENST00000465127.1:c.172-257238C>T ENSP00000417050.1:n.172-257238C>T
NM_000531.5:c.725C>T NP_000522.3:p.Thr242Ile
XM_017029556.1:c.725C>T XP_016885045.1:p.Thr242Ile
NM_000531.6:c.725C>T MANE Select NP_000522.3:p.Thr242Ile
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