Canonical Allele Identifier: CA412716391
Gene: OTC HGNC NCBI

Linked Data

gnomAD v4: X-38367406-T-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.193T>A MANE Select ENSP00000039007.4:p.Phe65Ile
ENST00000643344.1:c.193T>A ENSP00000496606.1:p.Phe65Ile
ENST00000039007.4:c.193T>A ENSP00000039007.4:p.Phe65Ile
ENST00000465127.1:c.172-298715T>A ENSP00000417050.1:n.172-298715T>A
ENST00000488812.1:n.285T>A
NM_000531.5:c.193T>A NP_000522.3:p.Phe65Ile
XM_017029556.1:c.193T>A XP_016885045.1:p.Phe65Ile
NM_000531.6:c.193T>A MANE Select NP_000522.3:p.Phe65Ile