Canonical Allele Identifier: CA515642216
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268161A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408908A>C , CM000685.2:g.38408908A>C GRCh38
NC_000023.10:g.38268161A>C , CM000685.1:g.38268161A>C GRCh37
NC_000023.9:g.38153105A>C NCBI36
NG_008471.1:g.61426A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.750A>C MANE Select ENSP00000039007.4:p.Pro250=
ENST00000643344.1:c.*500A>C ENSP00000496606.1:n.*500A>C
ENST00000039007.4:c.750A>C ENSP00000039007.4:p.Pro250=
ENST00000465127.1:c.172-257213A>C ENSP00000417050.1:n.172-257213A>C
NM_000531.5:c.750A>C NP_000522.3:p.Pro250=
XM_017029556.1:c.750A>C XP_016885045.1:p.Pro250=
NM_000531.6:c.750A>C MANE Select NP_000522.3:p.Pro250=
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Search 100 bp 3'