Canonical Allele Identifier: CA412721026
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38267998T>A (hg19) chrX:g.38408745T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408745T>A , CM000685.2:g.38408745T>A GRCh38
NC_000023.10:g.38267998T>A , CM000685.1:g.38267998T>A GRCh37
NC_000023.9:g.38152942T>A NCBI36
NG_008471.1:g.61263T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.667T>A MANE Select ENSP00000039007.4:p.Tyr223Asn
ENST00000643344.1:c.*417T>A ENSP00000496606.1:n.*417T>A
ENST00000039007.4:c.667T>A ENSP00000039007.4:p.Tyr223Asn
ENST00000465127.1:c.172-257376T>A ENSP00000417050.1:n.172-257376T>A
NM_000531.5:c.667T>A NP_000522.3:p.Tyr223Asn
XM_017029556.1:c.667T>A XP_016885045.1:p.Tyr223Asn
NM_000531.6:c.667T>A MANE Select NP_000522.3:p.Tyr223Asn
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