Canonical Allele Identifier: CA224459
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97109
dbSNP Id: rs72554310

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367344C>T , CM000685.2:g.38367344C>T GRCh38
NC_000023.10:g.38226597C>T , CM000685.1:g.38226597C>T GRCh37
NC_000023.9:g.38111541C>T NCBI36
NG_008471.1:g.19862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.131C>T MANE Select ENSP00000039007.4:p.Thr44Ile
ENST00000643344.1:c.131C>T ENSP00000496606.1:p.Thr44Ile
ENST00000039007.4:c.131C>T ENSP00000039007.4:p.Thr44Ile
ENST00000465127.1:c.172-298777C>T ENSP00000417050.1:n.172-298777C>T
ENST00000488812.1:n.223C>T
NM_000531.5:c.131C>T NP_000522.3:p.Thr44Ile
XM_017029556.1:c.131C>T XP_016885045.1:p.Thr44Ile
NM_000531.6:c.131C>T MANE Select NP_000522.3:p.Thr44Ile