Canonical Allele Identifier: CA875174589
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs1359495289
gnomAD v3: X-38403803-C-A
gnomAD v4: X-38403803-C-A
MyVariant Identifiers: chrX:g.38263056C>A (hg19) chrX:g.38403803C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403803C>A , CM000685.2:g.38403803C>A GRCh38
NC_000023.10:g.38263056C>A , CM000685.1:g.38263056C>A GRCh37
NC_000023.9:g.38148000C>A NCBI36
NG_008471.1:g.56321C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+63C>A MANE Select ENSP00000039007.4:n.663+63C>A
ENST00000643344.1:c.*413+63C>A ENSP00000496606.1:n.*413+63C>A
ENST00000039007.4:c.663+63C>A ENSP00000039007.4:n.663+63C>A
ENST00000465127.1:c.172-262318C>A ENSP00000417050.1:n.172-262318C>A
NM_000531.5:c.663+63C>A NP_000522.3:n.663+63C>A
XM_017029556.1:c.663+63C>A XP_016885045.1:n.663+63C>A
NM_000531.6:c.663+63C>A MANE Select NP_000522.3:n.663+63C>A
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