Canonical Allele Identifier: CA224584
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97189
ClinVar RCV Id: RCV000083424 RCV002513863
dbSNP Id: rs72552296
MyVariant Identifiers: chrX:g.38211952G>A (hg19) chrX:g.38352699G>A (hg38)
PubMed: PMID:11793483
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38352699G>A , CM000685.2:g.38352699G>A GRCh38
NC_000023.10:g.38211952G>A , CM000685.1:g.38211952G>A GRCh37
NC_000023.9:g.38096896G>A NCBI36
NG_008471.1:g.5217G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.3G>A MANE Select ENSP00000039007.4:p.Met1Ile
ENST00000643344.1:c.3G>A ENSP00000496606.1:p.Met1Ile
ENST00000039007.4:c.3G>A ENSP00000039007.4:p.Met1Ile
ENST00000465127.1:c.172-313422G>A ENSP00000417050.1:n.172-313422G>A
ENST00000488812.1:n.95G>A
NM_000531.5:c.3G>A NP_000522.3:p.Met1Ile
XM_017029556.1:c.3G>A XP_016885045.1:p.Met1Ile
NM_000531.6:c.3G>A MANE Select NP_000522.3:p.Met1Ile
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