Canonical Allele Identifier: CA1139667388
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 964262
ClinVar RCV Id: RCV001238450
dbSNP Id: rs2068302240
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367390dup , CM000685.2:g.38367390dup GRCh38
NC_000023.10:g.38226643dup , CM000685.1:g.38226643dup GRCh37
NC_000023.9:g.38111587dup NCBI36
NG_008471.1:g.19908dup

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.177dup MANE Select ENSP00000039007.4:p.Ser60IlefsTer7
ENST00000643344.1:c.177dup ENSP00000496606.1:p.Ser60IlefsTer7
ENST00000039007.4:c.177dup ENSP00000039007.4:p.Ser60IlefsTer7
ENST00000465127.1:c.172-298731dup ENSP00000417050.1:n.172-298731dup
ENST00000488812.1:n.269dup
NM_000531.5:c.177dup NP_000522.3:p.Ser60IlefsTer7
XM_017029556.1:c.177dup XP_016885045.1:p.Ser60IlefsTer7
NM_000531.6:c.177dup MANE Select NP_000522.3:p.Ser60IlefsTer7
Search 100 bp 5'
Search 100 bp 3'