Canonical Allele Identifier: CA285344
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 93220
ClinVar RCV Id: RCV000079084 RCV000283614 RCV002433585
dbSNP Id: rs73196229
ExAC: X:38240587 T / A
gnomAD v2: X-38240587-T-A
gnomAD v3: X-38381334-T-A
gnomAD v4: X-38381334-T-A
MyVariant Identifiers: chrX:g.38240587T>A (hg19) chrX:g.38381334T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381334T>A , CM000685.2:g.38381334T>A GRCh38
NC_000023.10:g.38240587T>A , CM000685.1:g.38240587T>A GRCh37
NC_000023.9:g.38125531T>A NCBI36
NG_008471.1:g.33852T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.299-8T>A MANE Select ENSP00000039007.4:n.299-8T>A
ENST00000643344.1:c.*49-8T>A ENSP00000496606.1:n.*49-8T>A
ENST00000039007.4:c.299-8T>A ENSP00000039007.4:n.299-8T>A
ENST00000465127.1:c.172-284787T>A ENSP00000417050.1:n.172-284787T>A
ENST00000488812.1:n.354-26T>A
NM_000531.5:c.299-8T>A NP_000522.3:n.299-8T>A
XM_017029556.1:c.299-8T>A XP_016885045.1:n.299-8T>A
NM_000531.6:c.299-8T>A MANE Select NP_000522.3:n.299-8T>A
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