Canonical Allele Identifier: CA2693443065
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38403764-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403764A>G , CM000685.2:g.38403764A>G GRCh38
NC_000023.10:g.38263017A>G , CM000685.1:g.38263017A>G GRCh37
NC_000023.9:g.38147961A>G NCBI36
NG_008471.1:g.56282A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+24A>G MANE Select ENSP00000039007.4:n.663+24A>G
ENST00000643344.1:c.*413+24A>G ENSP00000496606.1:n.*413+24A>G
ENST00000039007.4:c.663+24A>G ENSP00000039007.4:n.663+24A>G
ENST00000465127.1:c.172-262357A>G ENSP00000417050.1:n.172-262357A>G
NM_000531.5:c.663+24A>G NP_000522.3:n.663+24A>G
XM_017029556.1:c.663+24A>G XP_016885045.1:n.663+24A>G
NM_000531.6:c.663+24A>G MANE Select NP_000522.3:n.663+24A>G