Canonical Allele Identifier: CA412716394
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367406T>G , CM000685.2:g.38367406T>G GRCh38
NC_000023.10:g.38226659T>G , CM000685.1:g.38226659T>G GRCh37
NC_000023.9:g.38111603T>G NCBI36
NG_008471.1:g.19924T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.193T>G MANE Select ENSP00000039007.4:p.Phe65Val
ENST00000643344.1:c.193T>G ENSP00000496606.1:p.Phe65Val
ENST00000039007.4:c.193T>G ENSP00000039007.4:p.Phe65Val
ENST00000465127.1:c.172-298715T>G ENSP00000417050.1:n.172-298715T>G
ENST00000488812.1:n.285T>G
NM_000531.5:c.193T>G NP_000522.3:p.Phe65Val
XM_017029556.1:c.193T>G XP_016885045.1:p.Phe65Val
NM_000531.6:c.193T>G MANE Select NP_000522.3:p.Phe65Val