Canonical Allele Identifier: CA224601
Community Standard Title: NM_000531.6(OTC):c.422G>C (p.Arg141Pro)
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401310G>C , CM000685.2:g.38401310G>C GRCh38
NC_000023.10:g.38260563G>C , CM000685.1:g.38260563G>C GRCh37
NC_000023.9:g.38145507G>C NCBI36
NG_008471.1:g.53828G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000531.6:c.422G>C MANE Select NP_000522.3:p.Arg141Pro
ENST00000039007.5:c.422G>C MANE Select ENSP00000039007.4:p.Arg141Pro
NM_000531.5:c.422G>C NP_000522.3:p.Arg141Pro
ENST00000039007.4:c.422G>C ENSP00000039007.4:p.Arg141Pro
ENST00000465127.1:c.172-264811G>C ENSP00000417050.1:n.172-264811G>C
ENST00000488812.1:n.459G>C
ENST00000643344.1:c.*172G>C ENSP00000496606.1:n.*172G>C
XM_017029556.1:c.422G>C XP_016885045.1:p.Arg141Pro
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