Canonical Allele Identifier: CA2693442877
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38401431-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401431T>G , CM000685.2:g.38401431T>G GRCh38
NC_000023.10:g.38260684T>G , CM000685.1:g.38260684T>G GRCh37
NC_000023.9:g.38145628T>G NCBI36
NG_008471.1:g.53949T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.540+3T>G MANE Select ENSP00000039007.4:n.540+3T>G
ENST00000643344.1:c.*290+3T>G ENSP00000496606.1:n.*290+3T>G
ENST00000039007.4:c.540+3T>G ENSP00000039007.4:n.540+3T>G
ENST00000465127.1:c.172-264690T>G ENSP00000417050.1:n.172-264690T>G
ENST00000488812.1:n.577+3T>G
NM_000531.5:c.540+3T>G NP_000522.3:n.540+3T>G
XM_017029556.1:c.540+3T>G XP_016885045.1:n.540+3T>G
NM_000531.6:c.540+3T>G MANE Select NP_000522.3:n.540+3T>G
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