Canonical Allele Identifier: CA224717
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97275
dbSNP Id: rs72558417

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403703C>T , CM000685.2:g.38403703C>T GRCh38
NC_000023.10:g.38262956C>T , CM000685.1:g.38262956C>T GRCh37
NC_000023.9:g.38147900C>T NCBI36
NG_008471.1:g.56221C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.626C>T MANE Select ENSP00000039007.4:p.Ala209Val
ENST00000643344.1:c.*376C>T ENSP00000496606.1:n.*376C>T
ENST00000039007.4:c.626C>T ENSP00000039007.4:p.Ala209Val
ENST00000465127.1:c.172-262418C>T ENSP00000417050.1:n.172-262418C>T
NM_000531.5:c.626C>T NP_000522.3:p.Ala209Val
XM_017029556.1:c.626C>T XP_016885045.1:p.Ala209Val
NM_000531.6:c.626C>T MANE Select NP_000522.3:p.Ala209Val