Canonical Allele Identifier: CA412715964
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38367336-C-A
MyVariant Identifiers: chrX:g.38226589C>A (hg19) chrX:g.38367336C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367336C>A , CM000685.2:g.38367336C>A GRCh38
NC_000023.10:g.38226589C>A , CM000685.1:g.38226589C>A GRCh37
NC_000023.9:g.38111533C>A NCBI36
NG_008471.1:g.19854C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.123C>A MANE Select ENSP00000039007.4:p.Asp41Glu
ENST00000643344.1:c.123C>A ENSP00000496606.1:p.Asp41Glu
ENST00000039007.4:c.123C>A ENSP00000039007.4:p.Asp41Glu
ENST00000465127.1:c.172-298785C>A ENSP00000417050.1:n.172-298785C>A
ENST00000488812.1:n.215C>A
NM_000531.5:c.123C>A NP_000522.3:p.Asp41Glu
XM_017029556.1:c.123C>A XP_016885045.1:p.Asp41Glu
NM_000531.6:c.123C>A MANE Select NP_000522.3:p.Asp41Glu
Search 100 bp 5'
Search 100 bp 3'