Canonical Allele Identifier: CA515642765
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2094867
ClinVar RCV Id: RCV003010465
MyVariant Identifiers: chrX:g.38271222A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411969A>C , CM000685.2:g.38411969A>C GRCh38
NC_000023.10:g.38271222A>C , CM000685.1:g.38271222A>C GRCh37
NC_000023.9:g.38156166A>C NCBI36
NG_008471.1:g.64487A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.975A>C MANE Select ENSP00000039007.4:p.Pro325=
ENST00000643344.1:c.*725A>C ENSP00000496606.1:n.*725A>C
ENST00000039007.4:c.975A>C ENSP00000039007.4:p.Pro325=
ENST00000465127.1:c.172-254152A>C ENSP00000417050.1:n.172-254152A>C
NM_000531.5:c.975A>C NP_000522.3:p.Pro325=
NM_000531.6:c.975A>C MANE Select NP_000522.3:p.Pro325=
Search 100 bp 5'
Search 100 bp 3'