Canonical Allele Identifier: CA10385817
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1129030
ClinVar RCV Id: RCV001461992
dbSNP Id: rs771474981
ExAC: X:38229115 T / C
gnomAD v2: X-38229115-T-C
gnomAD v4: X-38369862-T-C
MyVariant Identifiers: chrX:g.38229115T>C (hg19) chrX:g.38369862T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369862T>C , CM000685.2:g.38369862T>C GRCh38
NC_000023.10:g.38229115T>C , CM000685.1:g.38229115T>C GRCh37
NC_000023.9:g.38114059T>C NCBI36
NG_008471.1:g.22380T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.283T>C MANE Select ENSP00000039007.4:p.Leu95=
ENST00000643344.1:c.283T>C ENSP00000496606.1:p.Leu95=
ENST00000039007.4:c.283T>C ENSP00000039007.4:p.Leu95=
ENST00000465127.1:c.172-296259T>C ENSP00000417050.1:n.172-296259T>C
ENST00000488812.1:n.353+22T>C
NM_000531.5:c.283T>C NP_000522.3:p.Leu95=
XM_017029556.1:c.283T>C XP_016885045.1:p.Leu95=
NM_000531.6:c.283T>C MANE Select NP_000522.3:p.Leu95=
Search 100 bp 5'
Search 100 bp 3'