Canonical Allele Identifier: CA1880225258
Community Standard Title: NM_016035.5(COQ4):c.155T= (p.Leu52=)
Gene: COQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128323100T= , CM000671.2:g.128323100T= GRCh38
NC_000009.11:g.131085379T= , CM000671.1:g.131085379T= GRCh37
NC_000009.10:g.130125200T= NCBI36
NG_042101.1:g.5593T=

Transcript Alleles

HGVS Amino-acid Change
NM_016035.5:c.155T= MANE Select NP_057119.3:p.Leu52=
ENST00000300452.8:c.155T= MANE Select ENSP00000300452.3:p.Leu52=
NM_001305942.1:c.155T= NP_001292871.1:p.Leu52=
NM_001305942.2:c.155T= NP_001292871.2:p.Leu52=
NM_016035.3:c.155T= NP_057119.2:p.Leu52=
NM_016035.4:c.155T= NP_057119.2:p.Leu52=
ENST00000300452.7:c.155T= ENSP00000300452.3:p.Leu52=
ENST00000372875.3:c.155T= ENSP00000361966.3:p.Leu52=
ENST00000608951.5:c.155T= ENSP00000476323.1:p.Leu52=
ENST00000609948.1:c.155T= ENSP00000477292.1:p.Leu52=
XM_011518761.1:c.155T= XP_011517063.1:p.Leu52=
XM_017014792.1:c.155T= XP_016870281.1:p.Leu52=
XM_017014793.1:c.155T= XP_016870282.1:p.Leu52=
XR_001746316.2:n.505T=
XR_929805.1:n.501T=
XR_929805.3:n.501T=