Canonical Allele Identifier: CA224655
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97228
ClinVar RCV Id: RCV000083468 RCV000990789
dbSNP Id: rs72556278
COSMIC: COSM1714876
MyVariant Identifiers: chrX:g.38260647C>T (hg19) chrX:g.38401394C>T (hg38)
PubMed: PMID:11117428
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401394C>T , CM000685.2:g.38401394C>T GRCh38
NC_000023.10:g.38260647C>T , CM000685.1:g.38260647C>T GRCh37
NC_000023.9:g.38145591C>T NCBI36
NG_008471.1:g.53912C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.506C>T MANE Select ENSP00000039007.4:p.Pro169Leu
ENST00000643344.1:c.*256C>T ENSP00000496606.1:n.*256C>T
ENST00000039007.4:c.506C>T ENSP00000039007.4:p.Pro169Leu
ENST00000465127.1:c.172-264727C>T ENSP00000417050.1:n.172-264727C>T
ENST00000488812.1:n.543C>T
NM_000531.5:c.506C>T NP_000522.3:p.Pro169Leu
XM_017029556.1:c.506C>T XP_016885045.1:p.Pro169Leu
NM_000531.6:c.506C>T MANE Select NP_000522.3:p.Pro169Leu
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