Canonical Allele Identifier: CA515650433
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2836816
ClinVar RCV Id: RCV003622989
MyVariant Identifiers: chrX:g.38260556T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401303T>C , CM000685.2:g.38401303T>C GRCh38
NC_000023.10:g.38260556T>C , CM000685.1:g.38260556T>C GRCh37
NC_000023.9:g.38145500T>C NCBI36
NG_008471.1:g.53821T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.415T>C MANE Select ENSP00000039007.4:p.Leu139=
ENST00000643344.1:c.*165T>C ENSP00000496606.1:n.*165T>C
ENST00000039007.4:c.415T>C ENSP00000039007.4:p.Leu139=
ENST00000465127.1:c.172-264818T>C ENSP00000417050.1:n.172-264818T>C
ENST00000488812.1:n.452T>C
NM_000531.5:c.415T>C NP_000522.3:p.Leu139=
XM_017029556.1:c.415T>C XP_016885045.1:p.Leu139=
NM_000531.6:c.415T>C MANE Select NP_000522.3:p.Leu139=
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