Canonical Allele Identifier: CA224444
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 11009
ClinVar RCV Id: RCV000011756 RCV000083325
dbSNP Id: rs66469337
MyVariant Identifiers: chrX:g.38280303T>G (hg19) chrX:g.38421050T>G (hg38)
PubMed: PMID:1480464 PMID:11793468
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421050T>G , CM000685.2:g.38421050T>G GRCh38
NC_000023.10:g.38280303T>G , CM000685.1:g.38280303T>G GRCh37
NC_000023.9:g.38165247T>G NCBI36
NG_008471.1:g.73568T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.1033T>G MANE Select ENSP00000039007.4:p.Tyr345Asp
ENST00000643344.1:c.*783T>G ENSP00000496606.1:n.*783T>G
ENST00000039007.4:c.1033T>G ENSP00000039007.4:p.Tyr345Asp
ENST00000465127.1:c.172-245071T>G ENSP00000417050.1:n.172-245071T>G
NM_000531.5:c.1033T>G NP_000522.3:p.Tyr345Asp
NM_000531.6:c.1033T>G MANE Select NP_000522.3:p.Tyr345Asp
Search 100 bp 5'
Search 100 bp 3'