Canonical Allele Identifier: CA412723044
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268209A>G (hg19) chrX:g.38408956A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408956A>G , CM000685.2:g.38408956A>G GRCh38
NC_000023.10:g.38268209A>G , CM000685.1:g.38268209A>G GRCh37
NC_000023.9:g.38153153A>G NCBI36
NG_008471.1:g.61474A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.798A>G MANE Select ENSP00000039007.4:p.Ile266Met
ENST00000643344.1:c.*548A>G ENSP00000496606.1:n.*548A>G
ENST00000039007.4:c.798A>G ENSP00000039007.4:p.Ile266Met
ENST00000465127.1:c.172-257165A>G ENSP00000417050.1:n.172-257165A>G
NM_000531.5:c.798A>G NP_000522.3:p.Ile266Met
XM_017029556.1:c.798A>G XP_016885045.1:p.Ile266Met
NM_000531.6:c.798A>G MANE Select NP_000522.3:p.Ile266Met
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