Canonical Allele Identifier: CA224504
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97136
dbSNP Id: rs72554327
gnomAD v4: X-38369795-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369795G>A , CM000685.2:g.38369795G>A GRCh38
NC_000023.10:g.38229048G>A , CM000685.1:g.38229048G>A GRCh37
NC_000023.9:g.38113992G>A NCBI36
NG_008471.1:g.22313G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.217-1G>A MANE Select ENSP00000039007.4:n.217-1G>A
ENST00000643344.1:c.217-1G>A ENSP00000496606.1:n.217-1G>A
ENST00000039007.4:c.217-1G>A ENSP00000039007.4:n.217-1G>A
ENST00000465127.1:c.172-296326G>A ENSP00000417050.1:n.172-296326G>A
ENST00000488812.1:n.309-1G>A
NM_000531.5:c.217-1G>A NP_000522.3:n.217-1G>A
XM_017029556.1:c.217-1G>A XP_016885045.1:n.217-1G>A
NM_000531.6:c.217-1G>A MANE Select NP_000522.3:n.217-1G>A