Canonical Allele Identifier: CA412723742
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 3075057
ClinVar RCV Id: RCV004015583
gnomAD v4: X-38409006-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409006G>T , CM000685.2:g.38409006G>T GRCh38
NC_000023.10:g.38268259G>T , CM000685.1:g.38268259G>T GRCh37
NC_000023.9:g.38153203G>T NCBI36
NG_008471.1:g.61524G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.848G>T MANE Select ENSP00000039007.4:p.Gly283Val
ENST00000643344.1:c.*598G>T ENSP00000496606.1:n.*598G>T
ENST00000039007.4:c.848G>T ENSP00000039007.4:p.Gly283Val
ENST00000465127.1:c.172-257115G>T ENSP00000417050.1:n.172-257115G>T
NM_000531.5:c.848G>T NP_000522.3:p.Gly283Val
XM_017029556.1:c.848G>T XP_016885045.1:p.Gly283Val
NM_000531.6:c.848G>T MANE Select NP_000522.3:p.Gly283Val