Canonical Allele Identifier: CA224764
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97306
ClinVar RCV Id: RCV000083552
dbSNP Id: rs72558436
gnomAD v3: X-38408889-T-A
gnomAD v4: X-38408889-T-A
MyVariant Identifiers: chrX:g.38268142T>A (hg19) chrX:g.38408889T>A (hg38)
PubMed: PMID:9452049
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408889T>A , CM000685.2:g.38408889T>A GRCh38
NC_000023.10:g.38268142T>A , CM000685.1:g.38268142T>A GRCh37
NC_000023.9:g.38153086T>A NCBI36
NG_008471.1:g.61407T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.731T>A MANE Select ENSP00000039007.4:p.Leu244Gln
ENST00000643344.1:c.*481T>A ENSP00000496606.1:n.*481T>A
ENST00000039007.4:c.731T>A ENSP00000039007.4:p.Leu244Gln
ENST00000465127.1:c.172-257232T>A ENSP00000417050.1:n.172-257232T>A
NM_000531.5:c.731T>A NP_000522.3:p.Leu244Gln
XM_017029556.1:c.731T>A XP_016885045.1:p.Leu244Gln
NM_000531.6:c.731T>A MANE Select NP_000522.3:p.Leu244Gln
Search 100 bp 5'
Search 100 bp 3'