Canonical Allele Identifier: CA412725107
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38262874C>A (hg19) chrX:g.38403621C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403621C>A , CM000685.2:g.38403621C>A GRCh38
NC_000023.10:g.38262874C>A , CM000685.1:g.38262874C>A GRCh37
NC_000023.9:g.38147818C>A NCBI36
NG_008471.1:g.56139C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.544C>A MANE Select ENSP00000039007.4:p.His182Asn
ENST00000643344.1:c.*294C>A ENSP00000496606.1:n.*294C>A
ENST00000039007.4:c.544C>A ENSP00000039007.4:p.His182Asn
ENST00000465127.1:c.172-262500C>A ENSP00000417050.1:n.172-262500C>A
ENST00000488812.1:n.581C>A
NM_000531.5:c.544C>A NP_000522.3:p.His182Asn
XM_017029556.1:c.544C>A XP_016885045.1:p.His182Asn
NM_000531.6:c.544C>A MANE Select NP_000522.3:p.His182Asn
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Search 100 bp 3'