Canonical Allele Identifier: CA10385865
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1150169
ClinVar RCV Id: RCV001490683
dbSNP Id: rs770910923
ExAC: X:38260544 G / A
gnomAD v2: X-38260544-G-A
gnomAD v4: X-38401291-G-A
MyVariant Identifiers: chrX:g.38260544G>A (hg19) chrX:g.38401291G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401291G>A , CM000685.2:g.38401291G>A GRCh38
NC_000023.10:g.38260544G>A , CM000685.1:g.38260544G>A GRCh37
NC_000023.9:g.38145488G>A NCBI36
NG_008471.1:g.53809G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.403G>A MANE Select ENSP00000039007.4:p.Ala135Thr
ENST00000643344.1:c.*153G>A ENSP00000496606.1:n.*153G>A
ENST00000039007.4:c.403G>A ENSP00000039007.4:p.Ala135Thr
ENST00000465127.1:c.172-264830G>A ENSP00000417050.1:n.172-264830G>A
ENST00000488812.1:n.440G>A
NM_000531.5:c.403G>A NP_000522.3:p.Ala135Thr
XM_017029556.1:c.403G>A XP_016885045.1:p.Ala135Thr
NM_000531.6:c.403G>A MANE Select NP_000522.3:p.Ala135Thr
Search 100 bp 5'
Search 100 bp 3'