Canonical Allele Identifier: CA224493
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97129
dbSNP Id: rs72554324

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367401T>C , CM000685.2:g.38367401T>C GRCh38
NC_000023.10:g.38226654T>C , CM000685.1:g.38226654T>C GRCh37
NC_000023.9:g.38111598T>C NCBI36
NG_008471.1:g.19919T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.188T>C MANE Select ENSP00000039007.4:p.Leu63Pro
ENST00000643344.1:c.188T>C ENSP00000496606.1:p.Leu63Pro
ENST00000039007.4:c.188T>C ENSP00000039007.4:p.Leu63Pro
ENST00000465127.1:c.172-298720T>C ENSP00000417050.1:n.172-298720T>C
ENST00000488812.1:n.280T>C
NM_000531.5:c.188T>C NP_000522.3:p.Leu63Pro
XM_017029556.1:c.188T>C XP_016885045.1:p.Leu63Pro
NM_000531.6:c.188T>C MANE Select NP_000522.3:p.Leu63Pro