Canonical Allele Identifier: CA224865
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97377
ClinVar RCV Id: RCV000083626
dbSNP Id: rs72558479
MyVariant Identifiers: chrX:g.38271238A>T (hg19) chrX:g.38411985A>T (hg38)
PubMed: PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411985A>T , CM000685.2:g.38411985A>T GRCh38
NC_000023.10:g.38271238A>T , CM000685.1:g.38271238A>T GRCh37
NC_000023.9:g.38156182A>T NCBI36
NG_008471.1:g.64503A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.991A>T MANE Select ENSP00000039007.4:p.Lys331Ter
ENST00000643344.1:c.*741A>T ENSP00000496606.1:n.*741A>T
ENST00000039007.4:c.991A>T ENSP00000039007.4:p.Lys331Ter
ENST00000465127.1:c.172-254136A>T ENSP00000417050.1:n.172-254136A>T
NM_000531.5:c.991A>T NP_000522.3:p.Lys331Ter
NM_000531.6:c.991A>T MANE Select NP_000522.3:p.Lys331Ter
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