Canonical Allele Identifier: CA412728138
Community Standard Title: NM_000531.6(OTC):c.1063T>G (p.Ter355Gly)
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421080T>G , CM000685.2:g.38421080T>G GRCh38
NC_000023.10:g.38280333T>G , CM000685.1:g.38280333T>G GRCh37
NC_000023.9:g.38165277T>G NCBI36
NG_008471.1:g.73598T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000531.6:c.1063T>G MANE Select NP_000522.3:p.Ter355Gly
ENST00000039007.5:c.1063T>G MANE Select ENSP00000039007.4:p.Ter355Gly
NM_000531.5:c.1063T>G NP_000522.3:p.Ter355Gly
ENST00000039007.4:c.1063T>G ENSP00000039007.4:p.Ter355Gly
ENST00000465127.1:c.172-245041T>G ENSP00000417050.1:n.172-245041T>G
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