Canonical Allele Identifier: CA224521
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97145
ClinVar RCV Id: RCV000083377
dbSNP Id: rs72554339
gnomAD v4: X-38369843-A-T
MyVariant Identifiers: chrX:g.38229096A>T (hg19) chrX:g.38369843A>T (hg38)
PubMed: PMID:8260194
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369843A>T , CM000685.2:g.38369843A>T GRCh38
NC_000023.10:g.38229096A>T , CM000685.1:g.38229096A>T GRCh37
NC_000023.9:g.38114040A>T NCBI36
NG_008471.1:g.22361A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.264A>T MANE Select ENSP00000039007.4:p.Lys88Asn
ENST00000643344.1:c.264A>T ENSP00000496606.1:p.Lys88Asn
ENST00000039007.4:c.264A>T ENSP00000039007.4:p.Lys88Asn
ENST00000465127.1:c.172-296278A>T ENSP00000417050.1:n.172-296278A>T
ENST00000488812.1:n.353+3A>T
NM_000531.5:c.264A>T NP_000522.3:p.Lys88Asn
XM_017029556.1:c.264A>T XP_016885045.1:p.Lys88Asn
NM_000531.6:c.264A>T MANE Select NP_000522.3:p.Lys88Asn
Search 100 bp 5'
Search 100 bp 3'