Canonical Allele Identifier: CA515646966
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs2147330566
MyVariant Identifiers: chrX:g.38240614A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381361A>G , CM000685.2:g.38381361A>G GRCh38
NC_000023.10:g.38240614A>G , CM000685.1:g.38240614A>G GRCh37
NC_000023.9:g.38125558A>G NCBI36
NG_008471.1:g.33879A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.318A>G MANE Select ENSP00000039007.4:p.Gly106=
ENST00000643344.1:c.*68A>G ENSP00000496606.1:n.*68A>G
ENST00000039007.4:c.318A>G ENSP00000039007.4:p.Gly106=
ENST00000465127.1:c.172-284760A>G ENSP00000417050.1:n.172-284760A>G
ENST00000488812.1:n.355A>G
NM_000531.5:c.318A>G NP_000522.3:p.Gly106=
XM_017029556.1:c.318A>G XP_016885045.1:p.Gly106=
NM_000531.6:c.318A>G MANE Select NP_000522.3:p.Gly106=
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