Canonical Allele Identifier: CA412722559
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268162T>A (hg19) chrX:g.38408909T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408909T>A , CM000685.2:g.38408909T>A GRCh38
NC_000023.10:g.38268162T>A , CM000685.1:g.38268162T>A GRCh37
NC_000023.9:g.38153106T>A NCBI36
NG_008471.1:g.61427T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.751T>A MANE Select ENSP00000039007.4:p.Leu251Met
ENST00000643344.1:c.*501T>A ENSP00000496606.1:n.*501T>A
ENST00000039007.4:c.751T>A ENSP00000039007.4:p.Leu251Met
ENST00000465127.1:c.172-257212T>A ENSP00000417050.1:n.172-257212T>A
NM_000531.5:c.751T>A NP_000522.3:p.Leu251Met
XM_017029556.1:c.751T>A XP_016885045.1:p.Leu251Met
NM_000531.6:c.751T>A MANE Select NP_000522.3:p.Leu251Met
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