Canonical Allele Identifier: CA224573
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97183
ClinVar RCV Id: RCV000083417
dbSNP Id: rs66556380
MyVariant Identifiers: chrX:g.38260526A>C (hg19) chrX:g.38401273A>C (hg38)
PubMed: PMID:10946359
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401273A>C , CM000685.2:g.38401273A>C GRCh38
NC_000023.10:g.38260526A>C , CM000685.1:g.38260526A>C GRCh37
NC_000023.9:g.38145470A>C NCBI36
NG_008471.1:g.53791A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.387-2A>C MANE Select ENSP00000039007.4:n.387-2A>C
ENST00000643344.1:c.*137-2A>C ENSP00000496606.1:n.*137-2A>C
ENST00000039007.4:c.387-2A>C ENSP00000039007.4:n.387-2A>C
ENST00000465127.1:c.172-264848A>C ENSP00000417050.1:n.172-264848A>C
ENST00000488812.1:n.424-2A>C
NM_000531.5:c.387-2A>C NP_000522.3:n.387-2A>C
XM_017029556.1:c.387-2A>C XP_016885045.1:n.387-2A>C
NM_000531.6:c.387-2A>C MANE Select NP_000522.3:n.387-2A>C
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