Canonical Allele Identifier: CA2693443078
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38403797-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403797A>G , CM000685.2:g.38403797A>G GRCh38
NC_000023.10:g.38263050A>G , CM000685.1:g.38263050A>G GRCh37
NC_000023.9:g.38147994A>G NCBI36
NG_008471.1:g.56315A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+57A>G MANE Select ENSP00000039007.4:n.663+57A>G
ENST00000643344.1:c.*413+57A>G ENSP00000496606.1:n.*413+57A>G
ENST00000039007.4:c.663+57A>G ENSP00000039007.4:n.663+57A>G
ENST00000465127.1:c.172-262324A>G ENSP00000417050.1:n.172-262324A>G
NM_000531.5:c.663+57A>G NP_000522.3:n.663+57A>G
XM_017029556.1:c.663+57A>G XP_016885045.1:n.663+57A>G
NM_000531.6:c.663+57A>G MANE Select NP_000522.3:n.663+57A>G
Search 100 bp 5'
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