Canonical Allele Identifier: CA2820489229
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38370042C>G , CM000685.2:g.38370042C>G GRCh38
NC_000023.10:g.38229295C>G , CM000685.1:g.38229295C>G GRCh37
NC_000023.9:g.38114239C>G NCBI36
NG_008471.1:g.22560C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+165C>G MANE Select ENSP00000039007.4:n.298+165C>G
ENST00000643344.1:c.298+165C>G ENSP00000496606.1:n.298+165C>G
ENST00000039007.4:c.298+165C>G ENSP00000039007.4:n.298+165C>G
ENST00000465127.1:c.172-296079C>G ENSP00000417050.1:n.172-296079C>G
ENST00000488812.1:n.353+202C>G
NM_000531.5:c.298+165C>G NP_000522.3:n.298+165C>G
XM_017029556.1:c.298+165C>G XP_016885045.1:n.298+165C>G
NM_000531.6:c.298+165C>G MANE Select NP_000522.3:n.298+165C>G
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