Canonical Allele Identifier: CA10385793
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1578310
ClinVar RCV Id: RCV002083523
dbSNP Id: rs144153859
gnomAD v2: X-38226613-C-G
gnomAD v4: X-38367360-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367360C>G , CM000685.2:g.38367360C>G GRCh38
NC_000023.10:g.38226613C>G , CM000685.1:g.38226613C>G GRCh37
NC_000023.9:g.38111557C>G NCBI36
NG_008471.1:g.19878C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.147C>G MANE Select ENSP00000039007.4:p.Thr49=
ENST00000643344.1:c.147C>G ENSP00000496606.1:p.Thr49=
ENST00000039007.4:c.147C>G ENSP00000039007.4:p.Thr49=
ENST00000465127.1:c.172-298761C>G ENSP00000417050.1:n.172-298761C>G
ENST00000488812.1:n.239C>G
NM_000531.5:c.147C>G NP_000522.3:p.Thr49=
XM_017029556.1:c.147C>G XP_016885045.1:p.Thr49=
NM_000531.6:c.147C>G MANE Select NP_000522.3:p.Thr49=