Canonical Allele Identifier: CA2693443001
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38403517-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403517C>A , CM000685.2:g.38403517C>A GRCh38
NC_000023.10:g.38262770C>A , CM000685.1:g.38262770C>A GRCh37
NC_000023.9:g.38147714C>A NCBI36
NG_008471.1:g.56035C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.541-101C>A MANE Select ENSP00000039007.4:n.541-101C>A
ENST00000643344.1:c.*291-101C>A ENSP00000496606.1:n.*291-101C>A
ENST00000039007.4:c.541-101C>A ENSP00000039007.4:n.541-101C>A
ENST00000465127.1:c.172-262604C>A ENSP00000417050.1:n.172-262604C>A
ENST00000488812.1:n.578-101C>A
NM_000531.5:c.541-101C>A NP_000522.3:n.541-101C>A
XM_017029556.1:c.541-101C>A XP_016885045.1:n.541-101C>A
NM_000531.6:c.541-101C>A MANE Select NP_000522.3:n.541-101C>A
Search 100 bp 5'
Search 100 bp 3'