Canonical Allele Identifier: CA412717048
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 451770
dbSNP Id: rs1555972538

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369879T>G , CM000685.2:g.38369879T>G GRCh38
NC_000023.10:g.38229132T>G , CM000685.1:g.38229132T>G GRCh37
NC_000023.9:g.38114076T>G NCBI36
NG_008471.1:g.22397T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+2T>G MANE Select ENSP00000039007.4:n.298+2T>G
ENST00000643344.1:c.298+2T>G ENSP00000496606.1:n.298+2T>G
ENST00000039007.4:c.298+2T>G ENSP00000039007.4:n.298+2T>G
ENST00000465127.1:c.172-296242T>G ENSP00000417050.1:n.172-296242T>G
ENST00000488812.1:n.353+39T>G
NM_000531.5:c.298+2T>G NP_000522.3:n.298+2T>G
XM_017029556.1:c.298+2T>G XP_016885045.1:n.298+2T>G
NM_000531.6:c.298+2T>G MANE Select NP_000522.3:n.298+2T>G