Canonical Allele Identifier: CA412725948
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38262977A>C (hg19) chrX:g.38403724A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403724A>C , CM000685.2:g.38403724A>C GRCh38
NC_000023.10:g.38262977A>C , CM000685.1:g.38262977A>C GRCh37
NC_000023.9:g.38147921A>C NCBI36
NG_008471.1:g.56242A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.647A>C MANE Select ENSP00000039007.4:p.Gln216Pro
ENST00000643344.1:c.*397A>C ENSP00000496606.1:n.*397A>C
ENST00000039007.4:c.647A>C ENSP00000039007.4:p.Gln216Pro
ENST00000465127.1:c.172-262397A>C ENSP00000417050.1:n.172-262397A>C
NM_000531.5:c.647A>C NP_000522.3:p.Gln216Pro
XM_017029556.1:c.647A>C XP_016885045.1:p.Gln216Pro
NM_000531.6:c.647A>C MANE Select NP_000522.3:p.Gln216Pro
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