Canonical Allele Identifier: CA224677
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97245
ClinVar RCV Id: RCV000083486
dbSNP Id: rs72556291
MyVariant Identifiers: chrX:g.38262875A>T (hg19) chrX:g.38403622A>T (hg38)
PubMed: PMID:8019569
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403622A>T , CM000685.2:g.38403622A>T GRCh38
NC_000023.10:g.38262875A>T , CM000685.1:g.38262875A>T GRCh37
NC_000023.9:g.38147819A>T NCBI36
NG_008471.1:g.56140A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.545A>T MANE Select ENSP00000039007.4:p.His182Leu
ENST00000643344.1:c.*295A>T ENSP00000496606.1:n.*295A>T
ENST00000039007.4:c.545A>T ENSP00000039007.4:p.His182Leu
ENST00000465127.1:c.172-262499A>T ENSP00000417050.1:n.172-262499A>T
ENST00000488812.1:n.582A>T
NM_000531.5:c.545A>T NP_000522.3:p.His182Leu
XM_017029556.1:c.545A>T XP_016885045.1:p.His182Leu
NM_000531.6:c.545A>T MANE Select NP_000522.3:p.His182Leu
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