Canonical Allele Identifier: CA412725266
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1485148
ClinVar RCV Id: RCV002008441
dbSNP Id: rs72556294
MyVariant Identifiers: chrX:g.38262892G>A (hg19) chrX:g.38403639G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403639G>A , CM000685.2:g.38403639G>A GRCh38
NC_000023.10:g.38262892G>A , CM000685.1:g.38262892G>A GRCh37
NC_000023.9:g.38147836G>A NCBI36
NG_008471.1:g.56157G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.562G>A MANE Select ENSP00000039007.4:p.Gly188Ser
ENST00000643344.1:c.*312G>A ENSP00000496606.1:n.*312G>A
ENST00000039007.4:c.562G>A ENSP00000039007.4:p.Gly188Ser
ENST00000465127.1:c.172-262482G>A ENSP00000417050.1:n.172-262482G>A
ENST00000488812.1:n.599G>A
NM_000531.5:c.562G>A NP_000522.3:p.Gly188Ser
XM_017029556.1:c.562G>A XP_016885045.1:p.Gly188Ser
NM_000531.6:c.562G>A MANE Select NP_000522.3:p.Gly188Ser
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