Canonical Allele Identifier: CA2693441912
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38352692-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38352692A>G , CM000685.2:g.38352692A>G GRCh38
NC_000023.10:g.38211945A>G , CM000685.1:g.38211945A>G GRCh37
NC_000023.9:g.38096889A>G NCBI36
NG_008471.1:g.5210A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.-5A>G MANE Select ENSP00000039007.4:n.-5A>G
ENST00000643344.1:c.-5A>G ENSP00000496606.1:n.-5A>G
ENST00000039007.4:c.-5A>G ENSP00000039007.4:n.-5A>G
ENST00000465127.1:c.172-313429A>G ENSP00000417050.1:n.172-313429A>G
ENST00000488812.1:n.88A>G
NM_000531.5:c.-5A>G NP_000522.3:n.-5A>G
XM_017029556.1:c.-5A>G XP_016885045.1:n.-5A>G
NM_000531.6:c.-5A>G MANE Select NP_000522.3:n.-5A>G
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