Canonical Allele Identifier: CA10385917
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2499129
ClinVar RCV Id: RCV003221430
dbSNP Id: rs750738921
ExAC: X:38268003 G / A
gnomAD v2: X-38268003-G-A
gnomAD v3: X-38408750-G-A
gnomAD v4: X-38408750-G-A
MyVariant Identifiers: chrX:g.38268003G>A (hg19) chrX:g.38408750G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408750G>A , CM000685.2:g.38408750G>A GRCh38
NC_000023.10:g.38268003G>A , CM000685.1:g.38268003G>A GRCh37
NC_000023.9:g.38152947G>A NCBI36
NG_008471.1:g.61268G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.672G>A MANE Select ENSP00000039007.4:p.Glu224=
ENST00000643344.1:c.*422G>A ENSP00000496606.1:n.*422G>A
ENST00000039007.4:c.672G>A ENSP00000039007.4:p.Glu224=
ENST00000465127.1:c.172-257371G>A ENSP00000417050.1:n.172-257371G>A
NM_000531.5:c.672G>A NP_000522.3:p.Glu224=
XM_017029556.1:c.672G>A XP_016885045.1:p.Glu224=
NM_000531.6:c.672G>A MANE Select NP_000522.3:p.Glu224=
Search 100 bp 5'
Search 100 bp 3'