Canonical Allele Identifier: CA2693443225
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38409054-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409054A>G , CM000685.2:g.38409054A>G GRCh38
NC_000023.10:g.38268307A>G , CM000685.1:g.38268307A>G GRCh37
NC_000023.9:g.38153251A>G NCBI36
NG_008471.1:g.61572A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.867+29A>G MANE Select ENSP00000039007.4:n.867+29A>G
ENST00000643344.1:c.*617+29A>G ENSP00000496606.1:n.*617+29A>G
ENST00000039007.4:c.867+29A>G ENSP00000039007.4:n.867+29A>G
ENST00000465127.1:c.172-257067A>G ENSP00000417050.1:n.172-257067A>G
NM_000531.5:c.867+29A>G NP_000522.3:n.867+29A>G
XM_017029556.1:c.867+29A>G XP_016885045.1:n.867+29A>G
NM_000531.6:c.867+29A>G MANE Select NP_000522.3:n.867+29A>G
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