Canonical Allele Identifier: CA515650455
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38401338-C-A
MyVariant Identifiers: chrX:g.38260591C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401338C>A , CM000685.2:g.38401338C>A GRCh38
NC_000023.10:g.38260591C>A , CM000685.1:g.38260591C>A GRCh37
NC_000023.9:g.38145535C>A NCBI36
NG_008471.1:g.53856C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.450C>A MANE Select ENSP00000039007.4:p.Thr150=
ENST00000643344.1:c.*200C>A ENSP00000496606.1:n.*200C>A
ENST00000039007.4:c.450C>A ENSP00000039007.4:p.Thr150=
ENST00000465127.1:c.172-264783C>A ENSP00000417050.1:n.172-264783C>A
ENST00000488812.1:n.487C>A
NM_000531.5:c.450C>A NP_000522.3:p.Thr150=
XM_017029556.1:c.450C>A XP_016885045.1:p.Thr150=
NM_000531.6:c.450C>A MANE Select NP_000522.3:p.Thr150=
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