Canonical Allele Identifier: CA224598
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 10988
ClinVar RCV Id: RCV000011735 RCV000083433
dbSNP Id: rs67960011
gnomAD v4: X-38401309-C-T
COSMIC: COSM4710490
MyVariant Identifiers: chrX:g.38260562C>T (hg19) chrX:g.38401309C>T (hg38)
PubMed: PMID:2741942 PMID:3170748
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401309C>T , CM000685.2:g.38401309C>T GRCh38
NC_000023.10:g.38260562C>T , CM000685.1:g.38260562C>T GRCh37
NC_000023.9:g.38145506C>T NCBI36
NG_008471.1:g.53827C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.421C>T MANE Select ENSP00000039007.4:p.Arg141Ter
ENST00000643344.1:c.*171C>T ENSP00000496606.1:n.*171C>T
ENST00000039007.4:c.421C>T ENSP00000039007.4:p.Arg141Ter
ENST00000465127.1:c.172-264812C>T ENSP00000417050.1:n.172-264812C>T
ENST00000488812.1:n.458C>T
NM_000531.5:c.421C>T NP_000522.3:p.Arg141Ter
XM_017029556.1:c.421C>T XP_016885045.1:p.Arg141Ter
NM_000531.6:c.421C>T MANE Select NP_000522.3:p.Arg141Ter
Search 100 bp 5'
Search 100 bp 3'