Canonical Allele Identifier: CA412715982
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38226591T>C (hg19) chrX:g.38367338T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367338T>C , CM000685.2:g.38367338T>C GRCh38
NC_000023.10:g.38226591T>C , CM000685.1:g.38226591T>C GRCh37
NC_000023.9:g.38111535T>C NCBI36
NG_008471.1:g.19856T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.125T>C MANE Select ENSP00000039007.4:p.Leu42Pro
ENST00000643344.1:c.125T>C ENSP00000496606.1:p.Leu42Pro
ENST00000039007.4:c.125T>C ENSP00000039007.4:p.Leu42Pro
ENST00000465127.1:c.172-298783T>C ENSP00000417050.1:n.172-298783T>C
ENST00000488812.1:n.217T>C
NM_000531.5:c.125T>C NP_000522.3:p.Leu42Pro
XM_017029556.1:c.125T>C XP_016885045.1:p.Leu42Pro
NM_000531.6:c.125T>C MANE Select NP_000522.3:p.Leu42Pro
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