Canonical Allele Identifier: CA412725627
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 496026
dbSNP Id: rs72558410

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403685C>T , CM000685.2:g.38403685C>T GRCh38
NC_000023.10:g.38262938C>T , CM000685.1:g.38262938C>T GRCh37
NC_000023.9:g.38147882C>T NCBI36
NG_008471.1:g.56203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.608C>T MANE Select ENSP00000039007.4:p.Ser203Phe
ENST00000643344.1:c.*358C>T ENSP00000496606.1:n.*358C>T
ENST00000039007.4:c.608C>T ENSP00000039007.4:p.Ser203Phe
ENST00000465127.1:c.172-262436C>T ENSP00000417050.1:n.172-262436C>T
NM_000531.5:c.608C>T NP_000522.3:p.Ser203Phe
XM_017029556.1:c.608C>T XP_016885045.1:p.Ser203Phe
NM_000531.6:c.608C>T MANE Select NP_000522.3:p.Ser203Phe