Canonical Allele Identifier: CA224867
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97378
ClinVar RCV Id: RCV000083627
dbSNP Id: rs72558480
MyVariant Identifiers: chrX:g.38271241T>A (hg19) chrX:g.38411988T>A (hg38)
PubMed: PMID:11388595
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411988T>A , CM000685.2:g.38411988T>A GRCh38
NC_000023.10:g.38271241T>A , CM000685.1:g.38271241T>A GRCh37
NC_000023.9:g.38156185T>A NCBI36
NG_008471.1:g.64506T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.994T>A MANE Select ENSP00000039007.4:p.Trp332Arg
ENST00000643344.1:c.*744T>A ENSP00000496606.1:n.*744T>A
ENST00000039007.4:c.994T>A ENSP00000039007.4:p.Trp332Arg
ENST00000465127.1:c.172-254133T>A ENSP00000417050.1:n.172-254133T>A
NM_000531.5:c.994T>A NP_000522.3:p.Trp332Arg
NM_000531.6:c.994T>A MANE Select NP_000522.3:p.Trp332Arg
Search 100 bp 5'
Search 100 bp 3'