Canonical Allele Identifier: CA221094
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 93224
ClinVar RCV Id: RCV000079088 RCV001854395
dbSNP Id: rs72558451
ExAC: X:38268219 C / G
gnomAD v2: X-38268219-C-G
gnomAD v3: X-38408966-C-G
gnomAD v4: X-38408966-C-G
MyVariant Identifiers: chrX:g.38268219C>G (hg19) chrX:g.38408966C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408966C>G , CM000685.2:g.38408966C>G GRCh38
NC_000023.10:g.38268219C>G , CM000685.1:g.38268219C>G GRCh37
NC_000023.9:g.38153163C>G NCBI36
NG_008471.1:g.61484C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.808C>G MANE Select ENSP00000039007.4:p.Gln270Glu
ENST00000643344.1:c.*558C>G ENSP00000496606.1:n.*558C>G
ENST00000039007.4:c.808C>G ENSP00000039007.4:p.Gln270Glu
ENST00000465127.1:c.172-257155C>G ENSP00000417050.1:n.172-257155C>G
NM_000531.5:c.808C>G NP_000522.3:p.Gln270Glu
XM_017029556.1:c.808C>G XP_016885045.1:p.Gln270Glu
NM_000531.6:c.808C>G MANE Select NP_000522.3:p.Gln270Glu
Search 100 bp 5'
Search 100 bp 3'