Canonical Allele Identifier: CA224864
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97376
ClinVar RCV Id: RCV000083625 RCV001857406
dbSNP Id: rs72558478
MyVariant Identifiers: chrX:g.38271235A>G (hg19) chrX:g.38411982A>G (hg38)
PubMed: PMID:9266388
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411982A>G , CM000685.2:g.38411982A>G GRCh38
NC_000023.10:g.38271235A>G , CM000685.1:g.38271235A>G GRCh37
NC_000023.9:g.38156179A>G NCBI36
NG_008471.1:g.64500A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.988A>G MANE Select ENSP00000039007.4:p.Arg330Gly
ENST00000643344.1:c.*738A>G ENSP00000496606.1:n.*738A>G
ENST00000039007.4:c.988A>G ENSP00000039007.4:p.Arg330Gly
ENST00000465127.1:c.172-254139A>G ENSP00000417050.1:n.172-254139A>G
NM_000531.5:c.988A>G NP_000522.3:p.Arg330Gly
NM_000531.6:c.988A>G MANE Select NP_000522.3:p.Arg330Gly
Search 100 bp 5'
Search 100 bp 3'