Canonical Allele Identifier: CA224487
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97125
dbSNP Id: rs72554320
gnomAD v4: X-38367380-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367380T>C , CM000685.2:g.38367380T>C GRCh38
NC_000023.10:g.38226633T>C , CM000685.1:g.38226633T>C GRCh37
NC_000023.9:g.38111577T>C NCBI36
NG_008471.1:g.19898T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.167T>C MANE Select ENSP00000039007.4:p.Met56Thr
ENST00000643344.1:c.167T>C ENSP00000496606.1:p.Met56Thr
ENST00000039007.4:c.167T>C ENSP00000039007.4:p.Met56Thr
ENST00000465127.1:c.172-298741T>C ENSP00000417050.1:n.172-298741T>C
ENST00000488812.1:n.259T>C
NM_000531.5:c.167T>C NP_000522.3:p.Met56Thr
XM_017029556.1:c.167T>C XP_016885045.1:p.Met56Thr
NM_000531.6:c.167T>C MANE Select NP_000522.3:p.Met56Thr