Canonical Allele Identifier: CA515642355
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1701596
ClinVar RCV Id: RCV002276222 RCV003096218
dbSNP Id: rs2147345258
MyVariant Identifiers: chrX:g.38268251T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408998T>G , CM000685.2:g.38408998T>G GRCh38
NC_000023.10:g.38268251T>G , CM000685.1:g.38268251T>G GRCh37
NC_000023.9:g.38153195T>G NCBI36
NG_008471.1:g.61516T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.840T>G MANE Select ENSP00000039007.4:p.Ala280=
ENST00000643344.1:c.*590T>G ENSP00000496606.1:n.*590T>G
ENST00000039007.4:c.840T>G ENSP00000039007.4:p.Ala280=
ENST00000465127.1:c.172-257123T>G ENSP00000417050.1:n.172-257123T>G
NM_000531.5:c.840T>G NP_000522.3:p.Ala280=
XM_017029556.1:c.840T>G XP_016885045.1:p.Ala280=
NM_000531.6:c.840T>G MANE Select NP_000522.3:p.Ala280=
Search 100 bp 5'
Search 100 bp 3'