Canonical Allele Identifier: CA224732
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97285
ClinVar RCV Id: RCV000083529 RCV002513864
dbSNP Id: rs72558427
MyVariant Identifiers: chrX:g.38262995T>C (hg19) chrX:g.38403742T>C (hg38)
PubMed: PMID:9266388
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403742T>C , CM000685.2:g.38403742T>C GRCh38
NC_000023.10:g.38262995T>C , CM000685.1:g.38262995T>C GRCh37
NC_000023.9:g.38147939T>C NCBI36
NG_008471.1:g.56260T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.663+2T>C MANE Select ENSP00000039007.4:n.663+2T>C
ENST00000643344.1:c.*413+2T>C ENSP00000496606.1:n.*413+2T>C
ENST00000039007.4:c.663+2T>C ENSP00000039007.4:n.663+2T>C
ENST00000465127.1:c.172-262379T>C ENSP00000417050.1:n.172-262379T>C
NM_000531.5:c.663+2T>C NP_000522.3:n.663+2T>C
XM_017029556.1:c.663+2T>C XP_016885045.1:n.663+2T>C
NM_000531.6:c.663+2T>C MANE Select NP_000522.3:n.663+2T>C
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