Canonical Allele Identifier: CA224494
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97130
ClinVar RCV Id: RCV000083359
dbSNP Id: rs67752076

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38352697A>G , CM000685.2:g.38352697A>G GRCh38
NC_000023.10:g.38211950A>G , CM000685.1:g.38211950A>G GRCh37
NC_000023.9:g.38096894A>G NCBI36
NG_008471.1:g.5215A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.1A>G MANE Select ENSP00000039007.4:p.Met1Val
ENST00000643344.1:c.1A>G ENSP00000496606.1:p.Met1Val
ENST00000039007.4:c.1A>G ENSP00000039007.4:p.Met1Val
ENST00000465127.1:c.172-313424A>G ENSP00000417050.1:n.172-313424A>G
ENST00000488812.1:n.93A>G
NM_000531.5:c.1A>G NP_000522.3:p.Met1Val
XM_017029556.1:c.1A>G XP_016885045.1:p.Met1Val
NM_000531.6:c.1A>G MANE Select NP_000522.3:p.Met1Val