Canonical Allele Identifier: CA312803
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 203870
ClinVar RCV Id: RCV000186071
dbSNP Id: rs796052016
MyVariant Identifiers: chrX:g.38262892_38262893del (hg19) chrX:g.38403639_38403640del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403639_38403640del , CM000685.2:g.38403639_38403640del GRCh38
NC_000023.10:g.38262892_38262893del , CM000685.1:g.38262892_38262893del GRCh37
NC_000023.9:g.38147836_38147837del NCBI36
NG_008471.1:g.56157_56158del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.562_563del MANE Select ENSP00000039007.4:p.Gly188SerfsTer?
ENST00000643344.1:c.*312_*313del ENSP00000496606.1:n.*312_*313del
ENST00000039007.4:c.562_563del ENSP00000039007.4:p.Gly188SerfsTer?
ENST00000465127.1:c.172-262482_172-262481del ENSP00000417050.1:n.172-262482_172-262481...
ENST00000488812.1:n.599_600del
NM_000531.5:c.562_563del NP_000522.3:p.Gly188SerfsTer?
XM_017029556.1:c.562_563del XP_016885045.1:p.Gly188SerfsTer?
NM_000531.6:c.562_563del MANE Select NP_000522.3:p.Gly188SerfsTer?
Search 100 bp 5'
Search 100 bp 3'