Canonical Allele Identifier: CA412726383
Community Standard Title: NM_000531.6(OTC):c.946T>G (p.Phe316Val)
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411940T>G , CM000685.2:g.38411940T>G GRCh38
NC_000023.10:g.38271193T>G , CM000685.1:g.38271193T>G GRCh37
NC_000023.9:g.38156137T>G NCBI36
NG_008471.1:g.64458T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000531.6:c.946T>G MANE Select NP_000522.3:p.Phe316Val
ENST00000039007.5:c.946T>G MANE Select ENSP00000039007.4:p.Phe316Val
NM_000531.5:c.946T>G NP_000522.3:p.Phe316Val
ENST00000039007.4:c.946T>G ENSP00000039007.4:p.Phe316Val
ENST00000465127.1:c.172-254181T>G ENSP00000417050.1:n.172-254181T>G
ENST00000643344.1:c.*696T>G ENSP00000496606.1:n.*696T>G