Canonical Allele Identifier: CA224693
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97258
ClinVar RCV Id: RCV000083500
dbSNP Id: rs66642398
MyVariant Identifiers: chrX:g.38262916G>T (hg19) chrX:g.38403663G>T (hg38)
PubMed: PMID:9686344
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403663G>T , CM000685.2:g.38403663G>T GRCh38
NC_000023.10:g.38262916G>T , CM000685.1:g.38262916G>T GRCh37
NC_000023.9:g.38147860G>T NCBI36
NG_008471.1:g.56181G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.586G>T MANE Select ENSP00000039007.4:p.Asp196Tyr
ENST00000643344.1:c.*336G>T ENSP00000496606.1:n.*336G>T
ENST00000039007.4:c.586G>T ENSP00000039007.4:p.Asp196Tyr
ENST00000465127.1:c.172-262458G>T ENSP00000417050.1:n.172-262458G>T
ENST00000488812.1:n.623G>T
NM_000531.5:c.586G>T NP_000522.3:p.Asp196Tyr
XM_017029556.1:c.586G>T XP_016885045.1:p.Asp196Tyr
NM_000531.6:c.586G>T MANE Select NP_000522.3:p.Asp196Tyr
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