Canonical Allele Identifier: CA224511
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 11006
ClinVar RCV Id: RCV000011753 RCV000083369
dbSNP Id: rs72554331
gnomAD v4: X-38369815-G-A
MyVariant Identifiers: chrX:g.38229068G>A (hg19) chrX:g.38369815G>A (hg38)
PubMed: PMID:1480464 PMID:11793468
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369815G>A , CM000685.2:g.38369815G>A GRCh38
NC_000023.10:g.38229068G>A , CM000685.1:g.38229068G>A GRCh37
NC_000023.9:g.38114012G>A NCBI36
NG_008471.1:g.22333G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.236G>A MANE Select ENSP00000039007.4:p.Gly79Glu
ENST00000643344.1:c.236G>A ENSP00000496606.1:p.Gly79Glu
ENST00000039007.4:c.236G>A ENSP00000039007.4:p.Gly79Glu
ENST00000465127.1:c.172-296306G>A ENSP00000417050.1:n.172-296306G>A
ENST00000488812.1:n.328G>A
NM_000531.5:c.236G>A NP_000522.3:p.Gly79Glu
XM_017029556.1:c.236G>A XP_016885045.1:p.Gly79Glu
NM_000531.6:c.236G>A MANE Select NP_000522.3:p.Gly79Glu
Search 100 bp 5'
Search 100 bp 3'