Canonical Allele Identifier: CA515642712
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38271171A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411918A>G , CM000685.2:g.38411918A>G GRCh38
NC_000023.10:g.38271171A>G , CM000685.1:g.38271171A>G GRCh37
NC_000023.9:g.38156115A>G NCBI36
NG_008471.1:g.64436A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.924A>G MANE Select ENSP00000039007.4:p.Pro308=
ENST00000643344.1:c.*674A>G ENSP00000496606.1:n.*674A>G
ENST00000039007.4:c.924A>G ENSP00000039007.4:p.Pro308=
ENST00000465127.1:c.172-254203A>G ENSP00000417050.1:n.172-254203A>G
NM_000531.5:c.924A>G NP_000522.3:p.Pro308=
NM_000531.6:c.924A>G MANE Select NP_000522.3:p.Pro308=
Search 100 bp 5'
Search 100 bp 3'