Canonical Allele Identifier: CA412716809
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 496896
ClinVar RCV Id: RCV000597047
dbSNP Id: rs1555972495
MyVariant Identifiers: chrX:g.38229060A>C (hg19) chrX:g.38369807A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369807A>C , CM000685.2:g.38369807A>C GRCh38
NC_000023.10:g.38229060A>C , CM000685.1:g.38229060A>C GRCh37
NC_000023.9:g.38114004A>C NCBI36
NG_008471.1:g.22325A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.228A>C MANE Select ENSP00000039007.4:p.Leu76Phe
ENST00000643344.1:c.228A>C ENSP00000496606.1:p.Leu76Phe
ENST00000039007.4:c.228A>C ENSP00000039007.4:p.Leu76Phe
ENST00000465127.1:c.172-296314A>C ENSP00000417050.1:n.172-296314A>C
ENST00000488812.1:n.320A>C
NM_000531.5:c.228A>C NP_000522.3:p.Leu76Phe
XM_017029556.1:c.228A>C XP_016885045.1:p.Leu76Phe
NM_000531.6:c.228A>C MANE Select NP_000522.3:p.Leu76Phe
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