Canonical Allele Identifier: CA224695
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97260
ClinVar RCV Id: RCV000083502 RCV001857404
dbSNP Id: rs72556301
MyVariant Identifiers: chrX:g.38262919G>A (hg19) chrX:g.38403666G>A (hg38)
PubMed: PMID:10502831
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403666G>A , CM000685.2:g.38403666G>A GRCh38
NC_000023.10:g.38262919G>A , CM000685.1:g.38262919G>A GRCh37
NC_000023.9:g.38147863G>A NCBI36
NG_008471.1:g.56184G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.589G>A MANE Select ENSP00000039007.4:p.Gly197Arg
ENST00000643344.1:c.*339G>A ENSP00000496606.1:n.*339G>A
ENST00000039007.4:c.589G>A ENSP00000039007.4:p.Gly197Arg
ENST00000465127.1:c.172-262455G>A ENSP00000417050.1:n.172-262455G>A
ENST00000488812.1:n.626G>A
NM_000531.5:c.589G>A NP_000522.3:p.Gly197Arg
XM_017029556.1:c.589G>A XP_016885045.1:p.Gly197Arg
NM_000531.6:c.589G>A MANE Select NP_000522.3:p.Gly197Arg
Search 100 bp 5'
Search 100 bp 3'