Canonical Allele Identifier: CA224730
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97283
ClinVar RCV Id: RCV000083527
dbSNP Id: rs68170503
MyVariant Identifiers: chrX:g.38262994G>A (hg19) chrX:g.38403741G>A (hg38)
PubMed: PMID:9266388
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403741G>A , CM000685.2:g.38403741G>A GRCh38
NC_000023.10:g.38262994G>A , CM000685.1:g.38262994G>A GRCh37
NC_000023.9:g.38147938G>A NCBI36
NG_008471.1:g.56259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+1G>A MANE Select ENSP00000039007.4:n.663+1G>A
ENST00000643344.1:c.*413+1G>A ENSP00000496606.1:n.*413+1G>A
ENST00000039007.4:c.663+1G>A ENSP00000039007.4:n.663+1G>A
ENST00000465127.1:c.172-262380G>A ENSP00000417050.1:n.172-262380G>A
NM_000531.5:c.663+1G>A NP_000522.3:n.663+1G>A
XM_017029556.1:c.663+1G>A XP_016885045.1:n.663+1G>A
NM_000531.6:c.663+1G>A MANE Select NP_000522.3:n.663+1G>A
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