Canonical Allele Identifier: CA224454
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 11014
dbSNP Id: rs72554308
gnomAD v4: X-38367332-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367332G>A , CM000685.2:g.38367332G>A GRCh38
NC_000023.10:g.38226585G>A , CM000685.1:g.38226585G>A GRCh37
NC_000023.9:g.38111529G>A NCBI36
NG_008471.1:g.19850G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.119G>A MANE Select ENSP00000039007.4:p.Arg40His
ENST00000643344.1:c.119G>A ENSP00000496606.1:p.Arg40His
ENST00000039007.4:c.119G>A ENSP00000039007.4:p.Arg40His
ENST00000465127.1:c.172-298789G>A ENSP00000417050.1:n.172-298789G>A
ENST00000488812.1:n.211G>A
NM_000531.5:c.119G>A NP_000522.3:p.Arg40His
XM_017029556.1:c.119G>A XP_016885045.1:p.Arg40His
NM_000531.6:c.119G>A MANE Select NP_000522.3:p.Arg40His