Canonical Allele Identifier: CA224537
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 11007
ClinVar RCV Id: RCV000011754 RCV000083388
dbSNP Id: rs72554345
MyVariant Identifiers: chrX:g.38229113G>C (hg19) chrX:g.38369860G>C (hg38)
PubMed: PMID:1480464 PMID:11793468
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369860G>C , CM000685.2:g.38369860G>C GRCh38
NC_000023.10:g.38229113G>C , CM000685.1:g.38229113G>C GRCh37
NC_000023.9:g.38114057G>C NCBI36
NG_008471.1:g.22378G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.281G>C MANE Select ENSP00000039007.4:p.Arg94Thr
ENST00000643344.1:c.281G>C ENSP00000496606.1:p.Arg94Thr
ENST00000039007.4:c.281G>C ENSP00000039007.4:p.Arg94Thr
ENST00000465127.1:c.172-296261G>C ENSP00000417050.1:n.172-296261G>C
ENST00000488812.1:n.353+20G>C
NM_000531.5:c.281G>C NP_000522.3:p.Arg94Thr
XM_017029556.1:c.281G>C XP_016885045.1:p.Arg94Thr
NM_000531.6:c.281G>C MANE Select NP_000522.3:p.Arg94Thr
Search 100 bp 5'
Search 100 bp 3'