Canonical Allele Identifier: CA10385873
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1168599
ClinVar RCV Id: RCV001518980
dbSNP Id: rs766735977
ExAC: X:38260590 C / T
gnomAD v2: X-38260590-C-T
gnomAD v3: X-38401337-C-T
gnomAD v4: X-38401337-C-T
MyVariant Identifiers: chrX:g.38260590C>T (hg19) chrX:g.38401337C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.449C>T MANE Select ENSP00000039007.4:p.Thr150Ile
ENST00000643344.1:c.*199C>T ENSP00000496606.1:n.*199C>T
ENST00000039007.4:c.449C>T ENSP00000039007.4:p.Thr150Ile
ENST00000465127.1:c.172-264784C>T ENSP00000417050.1:n.172-264784C>T
ENST00000488812.1:n.486C>T
NM_000531.5:c.449C>T NP_000522.3:p.Thr150Ile
XM_017029556.1:c.449C>T XP_016885045.1:p.Thr150Ile
NM_000531.6:c.449C>T MANE Select NP_000522.3:p.Thr150Ile
Search 100 bp 5'
Search 100 bp 3'