Canonical Allele Identifier: CA224861
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97374
ClinVar RCV Id: RCV000083623 RCV001857405
dbSNP Id: rs72558476
MyVariant Identifiers: chrX:g.38271223G>A (hg19) chrX:g.38411970G>A (hg38)
PubMed: PMID:10070627
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411970G>A , CM000685.2:g.38411970G>A GRCh38
NC_000023.10:g.38271223G>A , CM000685.1:g.38271223G>A GRCh37
NC_000023.9:g.38156167G>A NCBI36
NG_008471.1:g.64488G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.976G>A MANE Select ENSP00000039007.4:p.Glu326Lys
ENST00000643344.1:c.*726G>A ENSP00000496606.1:n.*726G>A
ENST00000039007.4:c.976G>A ENSP00000039007.4:p.Glu326Lys
ENST00000465127.1:c.172-254151G>A ENSP00000417050.1:n.172-254151G>A
NM_000531.5:c.976G>A NP_000522.3:p.Glu326Lys
NM_000531.6:c.976G>A MANE Select NP_000522.3:p.Glu326Lys
Search 100 bp 5'
Search 100 bp 3'