Canonical Allele Identifier: CA412726085
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1804689
ClinVar RCV Id: RCV002469986
COSMIC: COSM5798127
MyVariant Identifiers: chrX:g.38262993G>T (hg19) chrX:g.38403740G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403740G>T , CM000685.2:g.38403740G>T GRCh38
NC_000023.10:g.38262993G>T , CM000685.1:g.38262993G>T GRCh37
NC_000023.9:g.38147937G>T NCBI36
NG_008471.1:g.56258G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663G>T MANE Select ENSP00000039007.4:p.Lys221Asn
ENST00000643344.1:c.*413G>T ENSP00000496606.1:n.*413G>T
ENST00000039007.4:c.663G>T ENSP00000039007.4:p.Lys221Asn
ENST00000465127.1:c.172-262381G>T ENSP00000417050.1:n.172-262381G>T
NM_000531.5:c.663G>T NP_000522.3:p.Lys221Asn
XM_017029556.1:c.663G>T XP_016885045.1:p.Lys221Asn
NM_000531.6:c.663G>T MANE Select NP_000522.3:p.Lys221Asn
Search 100 bp 5'
Search 100 bp 3'