Canonical Allele Identifier: CA515642799
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 3074940
ClinVar RCV Id: RCV004015466
dbSNP Id: rs1569281367
MyVariant Identifiers: chrX:g.38271249C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411996C>T , CM000685.2:g.38411996C>T GRCh38
NC_000023.10:g.38271249C>T , CM000685.1:g.38271249C>T GRCh37
NC_000023.9:g.38156193C>T NCBI36
NG_008471.1:g.64514C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.1002C>T MANE Select ENSP00000039007.4:p.Ile334=
ENST00000643344.1:c.*752C>T ENSP00000496606.1:n.*752C>T
ENST00000039007.4:c.1002C>T ENSP00000039007.4:p.Ile334=
ENST00000465127.1:c.172-254125C>T ENSP00000417050.1:n.172-254125C>T
NM_000531.5:c.1002C>T NP_000522.3:p.Ile334=
NM_000531.6:c.1002C>T MANE Select NP_000522.3:p.Ile334=
Search 100 bp 5'
Search 100 bp 3'