Canonical Allele Identifier: CA224728
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97282
ClinVar RCV Id: RCV000083526
dbSNP Id: rs72558426
MyVariant Identifiers: chrX:g.38262989C>T (hg19) chrX:g.38403736C>T (hg38)
PubMed: PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403736C>T , CM000685.2:g.38403736C>T GRCh38
NC_000023.10:g.38262989C>T , CM000685.1:g.38262989C>T GRCh37
NC_000023.9:g.38147933C>T NCBI36
NG_008471.1:g.56254C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.659C>T MANE Select ENSP00000039007.4:p.Pro220Leu
ENST00000643344.1:c.*409C>T ENSP00000496606.1:n.*409C>T
ENST00000039007.4:c.659C>T ENSP00000039007.4:p.Pro220Leu
ENST00000465127.1:c.172-262385C>T ENSP00000417050.1:n.172-262385C>T
NM_000531.5:c.659C>T NP_000522.3:p.Pro220Leu
XM_017029556.1:c.659C>T XP_016885045.1:p.Pro220Leu
NM_000531.6:c.659C>T MANE Select NP_000522.3:p.Pro220Leu
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