Canonical Allele Identifier: CA412723327
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38401335-C-A
MyVariant Identifiers: chrX:g.38260588C>A (hg19) chrX:g.38401335C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401335C>A , CM000685.2:g.38401335C>A GRCh38
NC_000023.10:g.38260588C>A , CM000685.1:g.38260588C>A GRCh37
NC_000023.9:g.38145532C>A NCBI36
NG_008471.1:g.53853C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.447C>A MANE Select ENSP00000039007.4:p.Asp149Glu
ENST00000643344.1:c.*197C>A ENSP00000496606.1:n.*197C>A
ENST00000039007.4:c.447C>A ENSP00000039007.4:p.Asp149Glu
ENST00000465127.1:c.172-264786C>A ENSP00000417050.1:n.172-264786C>A
ENST00000488812.1:n.484C>A
NM_000531.5:c.447C>A NP_000522.3:p.Asp149Glu
XM_017029556.1:c.447C>A XP_016885045.1:p.Asp149Glu
NM_000531.6:c.447C>A MANE Select NP_000522.3:p.Asp149Glu
Search 100 bp 5'
Search 100 bp 3'