Canonical Allele Identifier: CA515650457
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2750731
ClinVar RCV Id: RCV003509439
dbSNP Id: rs2068485495
MyVariant Identifiers: chrX:g.38260591C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401338C>T , CM000685.2:g.38401338C>T GRCh38
NC_000023.10:g.38260591C>T , CM000685.1:g.38260591C>T GRCh37
NC_000023.9:g.38145535C>T NCBI36
NG_008471.1:g.53856C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.450C>T MANE Select ENSP00000039007.4:p.Thr150=
ENST00000643344.1:c.*200C>T ENSP00000496606.1:n.*200C>T
ENST00000039007.4:c.450C>T ENSP00000039007.4:p.Thr150=
ENST00000465127.1:c.172-264783C>T ENSP00000417050.1:n.172-264783C>T
ENST00000488812.1:n.487C>T
NM_000531.5:c.450C>T NP_000522.3:p.Thr150=
XM_017029556.1:c.450C>T XP_016885045.1:p.Thr150=
NM_000531.6:c.450C>T MANE Select NP_000522.3:p.Thr150=
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