Canonical Allele Identifier: CA2693443715
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38411818-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411818C>A , CM000685.2:g.38411818C>A GRCh38
NC_000023.10:g.38271071C>A , CM000685.1:g.38271071C>A GRCh37
NC_000023.9:g.38156015C>A NCBI36
NG_008471.1:g.64336C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.868-44C>A MANE Select ENSP00000039007.4:n.868-44C>A
ENST00000643344.1:c.*618-44C>A ENSP00000496606.1:n.*618-44C>A
ENST00000039007.4:c.868-44C>A ENSP00000039007.4:n.868-44C>A
ENST00000465127.1:c.172-254303C>A ENSP00000417050.1:n.172-254303C>A
NM_000531.5:c.868-44C>A NP_000522.3:n.868-44C>A
XM_017029556.1:c.893C>A XP_016885045.1:p.Ala298Asp
NM_000531.6:c.868-44C>A MANE Select NP_000522.3:n.868-44C>A
Search 100 bp 5'
Search 100 bp 3'