Canonical Allele Identifier: CA224731
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97284
ClinVar RCV Id: RCV000083528 RCV000634848
dbSNP Id: rs68170503
COSMIC: COSM6186690
MyVariant Identifiers: chrX:g.38262994G>T (hg19) chrX:g.38403741G>T (hg38)
PubMed: PMID:8566955
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403741G>T , CM000685.2:g.38403741G>T GRCh38
NC_000023.10:g.38262994G>T , CM000685.1:g.38262994G>T GRCh37
NC_000023.9:g.38147938G>T NCBI36
NG_008471.1:g.56259G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+1G>T MANE Select ENSP00000039007.4:n.663+1G>T
ENST00000643344.1:c.*413+1G>T ENSP00000496606.1:n.*413+1G>T
ENST00000039007.4:c.663+1G>T ENSP00000039007.4:n.663+1G>T
ENST00000465127.1:c.172-262380G>T ENSP00000417050.1:n.172-262380G>T
NM_000531.5:c.663+1G>T NP_000522.3:n.663+1G>T
XM_017029556.1:c.663+1G>T XP_016885045.1:n.663+1G>T
NM_000531.6:c.663+1G>T MANE Select NP_000522.3:n.663+1G>T
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