Canonical Allele Identifier: CA412723701
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1218722
ClinVar RCV Id: RCV001593918 RCV001732218
dbSNP Id: rs2068530349
gnomAD v3: X-38409005-G-C
gnomAD v4: X-38409005-G-C
MyVariant Identifiers: chrX:g.38268258G>C (hg19) chrX:g.38409005G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409005G>C , CM000685.2:g.38409005G>C GRCh38
NC_000023.10:g.38268258G>C , CM000685.1:g.38268258G>C GRCh37
NC_000023.9:g.38153202G>C NCBI36
NG_008471.1:g.61523G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.847G>C MANE Select ENSP00000039007.4:p.Gly283Arg
ENST00000643344.1:c.*597G>C ENSP00000496606.1:n.*597G>C
ENST00000039007.4:c.847G>C ENSP00000039007.4:p.Gly283Arg
ENST00000465127.1:c.172-257116G>C ENSP00000417050.1:n.172-257116G>C
NM_000531.5:c.847G>C NP_000522.3:p.Gly283Arg
XM_017029556.1:c.847G>C XP_016885045.1:p.Gly283Arg
NM_000531.6:c.847G>C MANE Select NP_000522.3:p.Gly283Arg
Search 100 bp 5'
Search 100 bp 3'