Canonical Allele Identifier: CA515642761
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2058131
ClinVar RCV Id: RCV002915038
dbSNP Id: rs1377185285
gnomAD v2: X-38271219-C-T
gnomAD v4: X-38411966-C-T
MyVariant Identifiers: chrX:g.38271219C>T (hg19) chrX:g.38411966C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411966C>T , CM000685.2:g.38411966C>T GRCh38
NC_000023.10:g.38271219C>T , CM000685.1:g.38271219C>T GRCh37
NC_000023.9:g.38156163C>T NCBI36
NG_008471.1:g.64484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.972C>T MANE Select ENSP00000039007.4:p.Phe324=
ENST00000643344.1:c.*722C>T ENSP00000496606.1:n.*722C>T
ENST00000039007.4:c.972C>T ENSP00000039007.4:p.Phe324=
ENST00000465127.1:c.172-254155C>T ENSP00000417050.1:n.172-254155C>T
NM_000531.5:c.972C>T NP_000522.3:p.Phe324=
NM_000531.6:c.972C>T MANE Select NP_000522.3:p.Phe324=
Search 100 bp 5'
Search 100 bp 3'