Canonical Allele Identifier: CA224696
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97261
ClinVar RCV Id: RCV000083503
dbSNP Id: rs72556302
MyVariant Identifiers: chrX:g.38262920G>A (hg19) chrX:g.38403667G>A (hg38)
PubMed: PMID:9686344
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403667G>A , CM000685.2:g.38403667G>A GRCh38
NC_000023.10:g.38262920G>A , CM000685.1:g.38262920G>A GRCh37
NC_000023.9:g.38147864G>A NCBI36
NG_008471.1:g.56185G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.590G>A MANE Select ENSP00000039007.4:p.Gly197Glu
ENST00000643344.1:c.*340G>A ENSP00000496606.1:n.*340G>A
ENST00000039007.4:c.590G>A ENSP00000039007.4:p.Gly197Glu
ENST00000465127.1:c.172-262454G>A ENSP00000417050.1:n.172-262454G>A
ENST00000488812.1:n.627G>A
NM_000531.5:c.590G>A NP_000522.3:p.Gly197Glu
XM_017029556.1:c.590G>A XP_016885045.1:p.Gly197Glu
NM_000531.6:c.590G>A MANE Select NP_000522.3:p.Gly197Glu
Search 100 bp 5'
Search 100 bp 3'