Canonical Allele Identifier: CA224704
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97266
ClinVar RCV Id: RCV000083508 RCV003509492
dbSNP Id: rs72558407
MyVariant Identifiers: chrX:g.38262932T>C (hg19) chrX:g.38403679T>C (hg38)
PubMed: PMID:9452024
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403679T>C , CM000685.2:g.38403679T>C GRCh38
NC_000023.10:g.38262932T>C , CM000685.1:g.38262932T>C GRCh37
NC_000023.9:g.38147876T>C NCBI36
NG_008471.1:g.56197T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.602T>C MANE Select ENSP00000039007.4:p.Leu201Pro
ENST00000643344.1:c.*352T>C ENSP00000496606.1:n.*352T>C
ENST00000039007.4:c.602T>C ENSP00000039007.4:p.Leu201Pro
ENST00000465127.1:c.172-262442T>C ENSP00000417050.1:n.172-262442T>C
NM_000531.5:c.602T>C NP_000522.3:p.Leu201Pro
XM_017029556.1:c.602T>C XP_016885045.1:p.Leu201Pro
NM_000531.6:c.602T>C MANE Select NP_000522.3:p.Leu201Pro
Search 100 bp 5'
Search 100 bp 3'