Canonical Allele Identifier: CA224761
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97303
ClinVar RCV Id: RCV000083549
dbSNP Id: rs72558433
MyVariant Identifiers: chrX:g.38268127A>G (hg19) chrX:g.38408874A>G (hg38)
PubMed: PMID:10070627
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408874A>G , CM000685.2:g.38408874A>G GRCh38
NC_000023.10:g.38268127A>G , CM000685.1:g.38268127A>G GRCh37
NC_000023.9:g.38153071A>G NCBI36
NG_008471.1:g.61392A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.718-2A>G MANE Select ENSP00000039007.4:n.718-2A>G
ENST00000643344.1:c.*468-2A>G ENSP00000496606.1:n.*468-2A>G
ENST00000039007.4:c.718-2A>G ENSP00000039007.4:n.718-2A>G
ENST00000465127.1:c.172-257247A>G ENSP00000417050.1:n.172-257247A>G
NM_000531.5:c.718-2A>G NP_000522.3:n.718-2A>G
XM_017029556.1:c.718-2A>G XP_016885045.1:n.718-2A>G
NM_000531.6:c.718-2A>G MANE Select NP_000522.3:n.718-2A>G
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