Canonical Allele Identifier: CA515642268
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268197A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408944A>C , CM000685.2:g.38408944A>C GRCh38
NC_000023.10:g.38268197A>C , CM000685.1:g.38268197A>C GRCh37
NC_000023.9:g.38153141A>C NCBI36
NG_008471.1:g.61462A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.786A>C MANE Select ENSP00000039007.4:p.Thr262=
ENST00000643344.1:c.*536A>C ENSP00000496606.1:n.*536A>C
ENST00000039007.4:c.786A>C ENSP00000039007.4:p.Thr262=
ENST00000465127.1:c.172-257177A>C ENSP00000417050.1:n.172-257177A>C
NM_000531.5:c.786A>C NP_000522.3:p.Thr262=
XM_017029556.1:c.786A>C XP_016885045.1:p.Thr262=
NM_000531.6:c.786A>C MANE Select NP_000522.3:p.Thr262=