Canonical Allele Identifier: CA10385874
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1581907
ClinVar RCV Id: RCV002111062
dbSNP Id: rs766735977
ExAC: X:38260590 C / A
gnomAD v2: X-38260590-C-A
gnomAD v3: X-38401337-C-A
gnomAD v4: X-38401337-C-A
MyVariant Identifiers: chrX:g.38260590C>A (hg19) chrX:g.38401337C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401337C>A , CM000685.2:g.38401337C>A GRCh38
NC_000023.10:g.38260590C>A , CM000685.1:g.38260590C>A GRCh37
NC_000023.9:g.38145534C>A NCBI36
NG_008471.1:g.53855C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.449C>A MANE Select ENSP00000039007.4:p.Thr150Asn
ENST00000643344.1:c.*199C>A ENSP00000496606.1:n.*199C>A
ENST00000039007.4:c.449C>A ENSP00000039007.4:p.Thr150Asn
ENST00000465127.1:c.172-264784C>A ENSP00000417050.1:n.172-264784C>A
ENST00000488812.1:n.486C>A
NM_000531.5:c.449C>A NP_000522.3:p.Thr150Asn
XM_017029556.1:c.449C>A XP_016885045.1:p.Thr150Asn
NM_000531.6:c.449C>A MANE Select NP_000522.3:p.Thr150Asn
Search 100 bp 5'
Search 100 bp 3'