Canonical Allele Identifier: CA327916723
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 487338
ClinVar RCV Id: RCV000627032 RCV000757584
dbSNP Id: rs749748052
gnomAD v3: X-38352591-C-A
gnomAD v4: X-38352591-C-A
MyVariant Identifiers: chrX:g.38211844C>A (hg19) chrX:g.38352591C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38352591C>A , CM000685.2:g.38352591C>A GRCh38
NC_000023.10:g.38211844C>A , CM000685.1:g.38211844C>A GRCh37
NC_000023.9:g.38096788C>A NCBI36
NG_008471.1:g.5109C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643344.1:c.-106C>A ENSP00000496606.1:n.-106C>A
ENST00000039007.4:c.-106C>A ENSP00000039007.4:n.-106C>A
ENST00000465127.1:c.172-313530C>A ENSP00000417050.1:n.172-313530C>A
NM_000531.5:c.-106C>A NP_000522.3:n.-106C>A
XM_017029556.1:c.-106C>A XP_016885045.1:n.-106C>A
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