Canonical Allele Identifier: CA224788
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97325
ClinVar RCV Id: RCV000083572 RCV003398689
dbSNP Id: rs72558443
MyVariant Identifiers: chrX:g.38268199A>G (hg19) chrX:g.38408946A>G (hg38)
PubMed: PMID:9686344
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408946A>G , CM000685.2:g.38408946A>G GRCh38
NC_000023.10:g.38268199A>G , CM000685.1:g.38268199A>G GRCh37
NC_000023.9:g.38153143A>G NCBI36
NG_008471.1:g.61464A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.788A>G MANE Select ENSP00000039007.4:p.Asp263Gly
ENST00000643344.1:c.*538A>G ENSP00000496606.1:n.*538A>G
ENST00000039007.4:c.788A>G ENSP00000039007.4:p.Asp263Gly
ENST00000465127.1:c.172-257175A>G ENSP00000417050.1:n.172-257175A>G
NM_000531.5:c.788A>G NP_000522.3:p.Asp263Gly
XM_017029556.1:c.788A>G XP_016885045.1:p.Asp263Gly
NM_000531.6:c.788A>G MANE Select NP_000522.3:p.Asp263Gly
Search 100 bp 5'
Search 100 bp 3'