Canonical Allele Identifier: CA224834
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 11008
ClinVar RCV Id: RCV000011755 RCV000083607
dbSNP Id: rs72558465
MyVariant Identifiers: chrX:g.38271159G>T (hg19) chrX:g.38411906G>T (hg38)
PubMed: PMID:1480464 PMID:11793468
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411906G>T , CM000685.2:g.38411906G>T GRCh38
NC_000023.10:g.38271159G>T , CM000685.1:g.38271159G>T GRCh37
NC_000023.9:g.38156103G>T NCBI36
NG_008471.1:g.64424G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.912G>T MANE Select ENSP00000039007.4:p.Leu304Phe
ENST00000643344.1:c.*662G>T ENSP00000496606.1:n.*662G>T
ENST00000039007.4:c.912G>T ENSP00000039007.4:p.Leu304Phe
ENST00000465127.1:c.172-254215G>T ENSP00000417050.1:n.172-254215G>T
NM_000531.5:c.912G>T NP_000522.3:p.Leu304Phe
NM_000531.6:c.912G>T MANE Select NP_000522.3:p.Leu304Phe
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