Canonical Allele Identifier: CA224469
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97116
ClinVar RCV Id: RCV000083344
dbSNP Id: rs72554316

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367358A>C , CM000685.2:g.38367358A>C GRCh38
NC_000023.10:g.38226611A>C , CM000685.1:g.38226611A>C GRCh37
NC_000023.9:g.38111555A>C NCBI36
NG_008471.1:g.19876A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.145A>C MANE Select ENSP00000039007.4:p.Thr49Pro
ENST00000643344.1:c.145A>C ENSP00000496606.1:p.Thr49Pro
ENST00000039007.4:c.145A>C ENSP00000039007.4:p.Thr49Pro
ENST00000465127.1:c.172-298763A>C ENSP00000417050.1:n.172-298763A>C
ENST00000488812.1:n.237A>C
NM_000531.5:c.145A>C NP_000522.3:p.Thr49Pro
XM_017029556.1:c.145A>C XP_016885045.1:p.Thr49Pro
NM_000531.6:c.145A>C MANE Select NP_000522.3:p.Thr49Pro