Canonical Allele Identifier: CA10385785
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 852531
ClinVar RCV Id: RCV001057159
dbSNP Id: rs199858968

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367296G>A , CM000685.2:g.38367296G>A GRCh38
NC_000023.10:g.38226549G>A , CM000685.1:g.38226549G>A GRCh37
NC_000023.9:g.38111493G>A NCBI36
NG_008471.1:g.19814G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.83G>A MANE Select ENSP00000039007.4:p.Gly28Glu
ENST00000643344.1:c.83G>A ENSP00000496606.1:p.Gly28Glu
ENST00000039007.4:c.83G>A ENSP00000039007.4:p.Gly28Glu
ENST00000465127.1:c.172-298825G>A ENSP00000417050.1:n.172-298825G>A
ENST00000488812.1:n.175G>A
NM_000531.5:c.83G>A NP_000522.3:p.Gly28Glu
XM_017029556.1:c.83G>A XP_016885045.1:p.Gly28Glu
NM_000531.6:c.83G>A MANE Select NP_000522.3:p.Gly28Glu