Canonical Allele Identifier: CA412726006
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38262985A>C (hg19) chrX:g.38403732A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403732A>C , CM000685.2:g.38403732A>C GRCh38
NC_000023.10:g.38262985A>C , CM000685.1:g.38262985A>C GRCh37
NC_000023.9:g.38147929A>C NCBI36
NG_008471.1:g.56250A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.655A>C MANE Select ENSP00000039007.4:p.Thr219Pro
ENST00000643344.1:c.*405A>C ENSP00000496606.1:n.*405A>C
ENST00000039007.4:c.655A>C ENSP00000039007.4:p.Thr219Pro
ENST00000465127.1:c.172-262389A>C ENSP00000417050.1:n.172-262389A>C
NM_000531.5:c.655A>C NP_000522.3:p.Thr219Pro
XM_017029556.1:c.655A>C XP_016885045.1:p.Thr219Pro
NM_000531.6:c.655A>C MANE Select NP_000522.3:p.Thr219Pro
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