Canonical Allele Identifier: CA515650434
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1582838
ClinVar RCV Id: RCV002091238
dbSNP Id: rs1416217766
gnomAD v2: X-38260558-G-A
gnomAD v4: X-38401305-G-A
MyVariant Identifiers: chrX:g.38260558G>A (hg19) chrX:g.38401305G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401305G>A , CM000685.2:g.38401305G>A GRCh38
NC_000023.10:g.38260558G>A , CM000685.1:g.38260558G>A GRCh37
NC_000023.9:g.38145502G>A NCBI36
NG_008471.1:g.53823G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.417G>A MANE Select ENSP00000039007.4:p.Leu139=
ENST00000643344.1:c.*167G>A ENSP00000496606.1:n.*167G>A
ENST00000039007.4:c.417G>A ENSP00000039007.4:p.Leu139=
ENST00000465127.1:c.172-264816G>A ENSP00000417050.1:n.172-264816G>A
ENST00000488812.1:n.454G>A
NM_000531.5:c.417G>A NP_000522.3:p.Leu139=
XM_017029556.1:c.417G>A XP_016885045.1:p.Leu139=
NM_000531.6:c.417G>A MANE Select NP_000522.3:p.Leu139=
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Search 100 bp 3'