Canonical Allele Identifier: CA412716279
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38367382-C-A
MyVariant Identifiers: chrX:g.38226635C>A (hg19) chrX:g.38367382C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367382C>A , CM000685.2:g.38367382C>A GRCh38
NC_000023.10:g.38226635C>A , CM000685.1:g.38226635C>A GRCh37
NC_000023.9:g.38111579C>A NCBI36
NG_008471.1:g.19900C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.169C>A MANE Select ENSP00000039007.4:p.Leu57Ile
ENST00000643344.1:c.169C>A ENSP00000496606.1:p.Leu57Ile
ENST00000039007.4:c.169C>A ENSP00000039007.4:p.Leu57Ile
ENST00000465127.1:c.172-298739C>A ENSP00000417050.1:n.172-298739C>A
ENST00000488812.1:n.261C>A
NM_000531.5:c.169C>A NP_000522.3:p.Leu57Ile
XM_017029556.1:c.169C>A XP_016885045.1:p.Leu57Ile
NM_000531.6:c.169C>A MANE Select NP_000522.3:p.Leu57Ile
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