Canonical Allele Identifier: CA224715
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97273
ClinVar RCV Id: RCV000083516 RCV003225028
dbSNP Id: rs72558415
gnomAD v4: X-38403698-C-A
MyVariant Identifiers: chrX:g.38262951C>A (hg19) chrX:g.38403698C>A (hg38)
PubMed: PMID:9452024
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403698C>A , CM000685.2:g.38403698C>A GRCh38
NC_000023.10:g.38262951C>A , CM000685.1:g.38262951C>A GRCh37
NC_000023.9:g.38147895C>A NCBI36
NG_008471.1:g.56216C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.621C>A MANE Select ENSP00000039007.4:p.Ser207Arg
ENST00000643344.1:c.*371C>A ENSP00000496606.1:n.*371C>A
ENST00000039007.4:c.621C>A ENSP00000039007.4:p.Ser207Arg
ENST00000465127.1:c.172-262423C>A ENSP00000417050.1:n.172-262423C>A
NM_000531.5:c.621C>A NP_000522.3:p.Ser207Arg
XM_017029556.1:c.621C>A XP_016885045.1:p.Ser207Arg
NM_000531.6:c.621C>A MANE Select NP_000522.3:p.Ser207Arg
Search 100 bp 5'
Search 100 bp 3'