Canonical Allele Identifier: CA10385778
Community Standard Title: NM_000531.6(OTC):c.78-32C>A
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367259C>A , CM000685.2:g.38367259C>A GRCh38
NC_000023.10:g.38226512C>A , CM000685.1:g.38226512C>A GRCh37
NC_000023.9:g.38111456C>A NCBI36
NG_008471.1:g.19777C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000531.6:c.78-32C>A MANE Select NP_000522.3:n.78-32C>A
ENST00000039007.5:c.78-32C>A MANE Select ENSP00000039007.4:n.78-32C>A
NM_000531.5:c.78-32C>A NP_000522.3:n.78-32C>A
ENST00000039007.4:c.78-32C>A ENSP00000039007.4:n.78-32C>A
ENST00000465127.1:c.172-298862C>A ENSP00000417050.1:n.172-298862C>A
ENST00000488812.1:n.170-32C>A
ENST00000643344.1:c.78-32C>A ENSP00000496606.1:n.78-32C>A
XM_017029556.1:c.78-32C>A XP_016885045.1:n.78-32C>A
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