Canonical Allele Identifier: CA224552
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97167
ClinVar RCV Id: RCV000083400
dbSNP Id: rs72554352
gnomAD v4: X-38381359-G-A
MyVariant Identifiers: chrX:g.38240612G>A (hg19) chrX:g.38381359G>A (hg38)
PubMed: PMID:10946359
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381359G>A , CM000685.2:g.38381359G>A GRCh38
NC_000023.10:g.38240612G>A , CM000685.1:g.38240612G>A GRCh37
NC_000023.9:g.38125556G>A NCBI36
NG_008471.1:g.33877G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.316G>A MANE Select ENSP00000039007.4:p.Gly106Arg
ENST00000643344.1:c.*66G>A ENSP00000496606.1:n.*66G>A
ENST00000039007.4:c.316G>A ENSP00000039007.4:p.Gly106Arg
ENST00000465127.1:c.172-284762G>A ENSP00000417050.1:n.172-284762G>A
ENST00000488812.1:n.354-1G>A
NM_000531.5:c.316G>A NP_000522.3:p.Gly106Arg
XM_017029556.1:c.316G>A XP_016885045.1:p.Gly106Arg
NM_000531.6:c.316G>A MANE Select NP_000522.3:p.Gly106Arg
Search 100 bp 5'
Search 100 bp 3'