Canonical Allele Identifier: CA2693442840
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38401217-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401217A>T , CM000685.2:g.38401217A>T GRCh38
NC_000023.10:g.38260470A>T , CM000685.1:g.38260470A>T GRCh37
NC_000023.9:g.38145414A>T NCBI36
NG_008471.1:g.53735A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.387-58A>T MANE Select ENSP00000039007.4:n.387-58A>T
ENST00000643344.1:c.*137-58A>T ENSP00000496606.1:n.*137-58A>T
ENST00000039007.4:c.387-58A>T ENSP00000039007.4:n.387-58A>T
ENST00000465127.1:c.172-264904A>T ENSP00000417050.1:n.172-264904A>T
ENST00000488812.1:n.424-58A>T
NM_000531.5:c.387-58A>T NP_000522.3:n.387-58A>T
XM_017029556.1:c.387-58A>T XP_016885045.1:n.387-58A>T
NM_000531.6:c.387-58A>T MANE Select NP_000522.3:n.387-58A>T
Search 100 bp 5'
Search 100 bp 3'