Canonical Allele Identifier: CA10385939
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1655516
ClinVar RCV Id: RCV002158983
dbSNP Id: rs72558440
ExAC: X:38268175 A / G
gnomAD v2: X-38268175-A-G
gnomAD v3: X-38408922-A-G
gnomAD v4: X-38408922-A-G
MyVariant Identifiers: chrX:g.38268175A>G (hg19) chrX:g.38408922A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408922A>G , CM000685.2:g.38408922A>G GRCh38
NC_000023.10:g.38268175A>G , CM000685.1:g.38268175A>G GRCh37
NC_000023.9:g.38153119A>G NCBI36
NG_008471.1:g.61440A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.764A>G MANE Select ENSP00000039007.4:p.His255Arg
ENST00000643344.1:c.*514A>G ENSP00000496606.1:n.*514A>G
ENST00000039007.4:c.764A>G ENSP00000039007.4:p.His255Arg
ENST00000465127.1:c.172-257199A>G ENSP00000417050.1:n.172-257199A>G
NM_000531.5:c.764A>G NP_000522.3:p.His255Arg
XM_017029556.1:c.764A>G XP_016885045.1:p.His255Arg
NM_000531.6:c.764A>G MANE Select NP_000522.3:p.His255Arg
Search 100 bp 5'
Search 100 bp 3'