Canonical Allele Identifier: CA515646989
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38240635A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381382A>G , CM000685.2:g.38381382A>G GRCh38
NC_000023.10:g.38240635A>G , CM000685.1:g.38240635A>G GRCh37
NC_000023.9:g.38125579A>G NCBI36
NG_008471.1:g.33900A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.339A>G MANE Select ENSP00000039007.4:p.Thr113=
ENST00000643344.1:c.*89A>G ENSP00000496606.1:n.*89A>G
ENST00000039007.4:c.339A>G ENSP00000039007.4:p.Thr113=
ENST00000465127.1:c.172-284739A>G ENSP00000417050.1:n.172-284739A>G
ENST00000488812.1:n.376A>G
NM_000531.5:c.339A>G NP_000522.3:p.Thr113=
XM_017029556.1:c.339A>G XP_016885045.1:p.Thr113=
NM_000531.6:c.339A>G MANE Select NP_000522.3:p.Thr113=
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