Canonical Allele Identifier: CA515642334
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2866528
ClinVar RCV Id: RCV003623501
gnomAD v4: X-38408987-C-A
COSMIC: COSM3844658
MyVariant Identifiers: chrX:g.38268240C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408987C>A , CM000685.2:g.38408987C>A GRCh38
NC_000023.10:g.38268240C>A , CM000685.1:g.38268240C>A GRCh37
NC_000023.9:g.38153184C>A NCBI36
NG_008471.1:g.61505C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.829C>A MANE Select ENSP00000039007.4:p.Arg277=
ENST00000643344.1:c.*579C>A ENSP00000496606.1:n.*579C>A
ENST00000039007.4:c.829C>A ENSP00000039007.4:p.Arg277=
ENST00000465127.1:c.172-257134C>A ENSP00000417050.1:n.172-257134C>A
NM_000531.5:c.829C>A NP_000522.3:p.Arg277=
XM_017029556.1:c.829C>A XP_016885045.1:p.Arg277=
NM_000531.6:c.829C>A MANE Select NP_000522.3:p.Arg277=
Search 100 bp 5'
Search 100 bp 3'