Canonical Allele Identifier: CA10385822
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2881700
ClinVar RCV Id: RCV003623674
dbSNP Id: rs768834487
ExAC: X:38229148 T / A
gnomAD v2: X-38229148-T-A
gnomAD v4: X-38369895-T-A
MyVariant Identifiers: chrX:g.38229148T>A (hg19) chrX:g.38369895T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369895T>A , CM000685.2:g.38369895T>A GRCh38
NC_000023.10:g.38229148T>A , CM000685.1:g.38229148T>A GRCh37
NC_000023.9:g.38114092T>A NCBI36
NG_008471.1:g.22413T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.298+18T>A MANE Select ENSP00000039007.4:n.298+18T>A
ENST00000643344.1:c.298+18T>A ENSP00000496606.1:n.298+18T>A
ENST00000039007.4:c.298+18T>A ENSP00000039007.4:n.298+18T>A
ENST00000465127.1:c.172-296226T>A ENSP00000417050.1:n.172-296226T>A
ENST00000488812.1:n.353+55T>A
NM_000531.5:c.298+18T>A NP_000522.3:n.298+18T>A
XM_017029556.1:c.298+18T>A XP_016885045.1:n.298+18T>A
NM_000531.6:c.298+18T>A MANE Select NP_000522.3:n.298+18T>A
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