Canonical Allele Identifier: CA10385872
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2004880
ClinVar RCV Id: RCV002828383
dbSNP Id: rs758684873
ExAC: X:38260589 A / T
gnomAD v2: X-38260589-A-T
gnomAD v4: X-38401336-A-T
MyVariant Identifiers: chrX:g.38260589A>T (hg19) chrX:g.38401336A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401336A>T , CM000685.2:g.38401336A>T GRCh38
NC_000023.10:g.38260589A>T , CM000685.1:g.38260589A>T GRCh37
NC_000023.9:g.38145533A>T NCBI36
NG_008471.1:g.53854A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.448A>T MANE Select ENSP00000039007.4:p.Thr150Ser
ENST00000643344.1:c.*198A>T ENSP00000496606.1:n.*198A>T
ENST00000039007.4:c.448A>T ENSP00000039007.4:p.Thr150Ser
ENST00000465127.1:c.172-264785A>T ENSP00000417050.1:n.172-264785A>T
ENST00000488812.1:n.485A>T
NM_000531.5:c.448A>T NP_000522.3:p.Thr150Ser
XM_017029556.1:c.448A>T XP_016885045.1:p.Thr150Ser
NM_000531.6:c.448A>T MANE Select NP_000522.3:p.Thr150Ser
Search 100 bp 5'
Search 100 bp 3'