Canonical Allele Identifier: CA224716
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97274
ClinVar RCV Id: RCV000083517 RCV001218092 RCV004019582
dbSNP Id: rs72558416
gnomAD v4: X-38403699-G-A
COSMIC: COSM1121088
MyVariant Identifiers: chrX:g.38262952G>A (hg19) chrX:g.38403699G>A (hg38)
PubMed: PMID:9007316
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403699G>A , CM000685.2:g.38403699G>A GRCh38
NC_000023.10:g.38262952G>A , CM000685.1:g.38262952G>A GRCh37
NC_000023.9:g.38147896G>A NCBI36
NG_008471.1:g.56217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.622G>A MANE Select ENSP00000039007.4:p.Ala208Thr
ENST00000643344.1:c.*372G>A ENSP00000496606.1:n.*372G>A
ENST00000039007.4:c.622G>A ENSP00000039007.4:p.Ala208Thr
ENST00000465127.1:c.172-262422G>A ENSP00000417050.1:n.172-262422G>A
NM_000531.5:c.622G>A NP_000522.3:p.Ala208Thr
XM_017029556.1:c.622G>A XP_016885045.1:p.Ala208Thr
NM_000531.6:c.622G>A MANE Select NP_000522.3:p.Ala208Thr
Search 100 bp 5'
Search 100 bp 3'