Canonical Allele Identifier: CA658658977
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 449382
ClinVar RCV Id: RCV000521922 RCV000548908 RCV000626698
dbSNP Id: rs1555975756
MyVariant Identifiers: chrX:g.38260946G>A (hg19) chrX:g.38401693G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401693G>A , CM000685.2:g.38401693G>A GRCh38
NC_000023.10:g.38260946G>A , CM000685.1:g.38260946G>A GRCh37
NC_000023.9:g.38145890G>A NCBI36
NG_008471.1:g.54211G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.540+265G>A MANE Select ENSP00000039007.4:n.540+265G>A
ENST00000643344.1:c.*290+265G>A ENSP00000496606.1:n.*290+265G>A
ENST00000039007.4:c.540+265G>A ENSP00000039007.4:n.540+265G>A
ENST00000465127.1:c.172-264428G>A ENSP00000417050.1:n.172-264428G>A
ENST00000488812.1:n.577+265G>A
NM_000531.5:c.540+265G>A NP_000522.3:n.540+265G>A
XM_017029556.1:c.540+265G>A XP_016885045.1:n.540+265G>A
NM_000531.6:c.540+265G>A MANE Select NP_000522.3:n.540+265G>A
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