Canonical Allele Identifier: CA224440
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97098
ClinVar RCV Id: RCV000083322
dbSNP Id: rs72558490
MyVariant Identifiers: chrX:g.38280292T>C (hg19) chrX:g.38421039T>C (hg38)
PubMed: PMID:11793483
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421039T>C , CM000685.2:g.38421039T>C GRCh38
NC_000023.10:g.38280292T>C , CM000685.1:g.38280292T>C GRCh37
NC_000023.9:g.38165236T>C NCBI36
NG_008471.1:g.73557T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.1022T>C MANE Select ENSP00000039007.4:p.Leu341Pro
ENST00000643344.1:c.*772T>C ENSP00000496606.1:n.*772T>C
ENST00000039007.4:c.1022T>C ENSP00000039007.4:p.Leu341Pro
ENST00000465127.1:c.172-245082T>C ENSP00000417050.1:n.172-245082T>C
NM_000531.5:c.1022T>C NP_000522.3:p.Leu341Pro
NM_000531.6:c.1022T>C MANE Select NP_000522.3:p.Leu341Pro
Search 100 bp 5'
Search 100 bp 3'