Canonical Allele Identifier: CA224682
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97250
ClinVar RCV Id: RCV000083491
dbSNP Id: rs72556296
MyVariant Identifiers: chrX:g.38262901C>T (hg19) chrX:g.38403648C>T (hg38)
PubMed: PMID:11793483
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403648C>T , CM000685.2:g.38403648C>T GRCh38
NC_000023.10:g.38262901C>T , CM000685.1:g.38262901C>T GRCh37
NC_000023.9:g.38147845C>T NCBI36
NG_008471.1:g.56166C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.571C>T MANE Select ENSP00000039007.4:p.Leu191Phe
ENST00000643344.1:c.*321C>T ENSP00000496606.1:n.*321C>T
ENST00000039007.4:c.571C>T ENSP00000039007.4:p.Leu191Phe
ENST00000465127.1:c.172-262473C>T ENSP00000417050.1:n.172-262473C>T
ENST00000488812.1:n.608C>T
NM_000531.5:c.571C>T NP_000522.3:p.Leu191Phe
XM_017029556.1:c.571C>T XP_016885045.1:p.Leu191Phe
NM_000531.6:c.571C>T MANE Select NP_000522.3:p.Leu191Phe
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