Canonical Allele Identifier: CA372763396
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs2053553551
gnomAD v4: 9-377157-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377157C>A , CM000671.2:g.377157C>A GRCh38
NC_000009.11:g.377157C>A , CM000671.1:g.377157C>A GRCh37
NC_000009.10:g.367157C>A NCBI36
NG_017007.1:g.167293C>A , LRG_196:g.167293C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2182C>A ENSP00000371766.2:p.Leu728Met
ENST00000382331.6:n.883C>A
ENST00000483757.6:c.*1073C>A ENSP00000417691.2:n.*1073C>A
ENST00000682260.1:n.2282C>A
ENST00000685949.1:n.1174C>A
ENST00000432829.7:c.2386C>A MANE Select ENSP00000394888.3:p.Leu796Met
ENST00000382329.1:c.787C>A ENSP00000371766.1:p.Leu263Met
ENST00000382331.5:c.292C>A ENSP00000371768.1:p.Leu98Met
ENST00000432829.6:c.2386C>A ENSP00000394888.3:p.Leu796Met
ENST00000453981.5:c.2182C>A ENSP00000408464.2:p.Leu728Met
ENST00000469391.5:c.2182C>A ENSP00000419438.1:p.Leu728Met
ENST00000483757.5:c.*1861C>A ENSP00000417691.1:n.*1861C>A
ENST00000495184.5:n.4341C>A
NM_001190458.1:c.2182C>A NP_001177387.1:p.Leu728Met
NM_001193536.1:c.2182C>A NP_001180465.1:p.Leu728Met
NM_203447.3:c.2386C>A , LRG_196t1:c.2386C>A NP_982272.2:p.Leu796Met
XM_011518045.1:c.2182C>A XP_011516347.1:p.Leu728Met
XM_011518046.1:c.2248C>A XP_011516348.1:p.Leu750Met
XM_011518047.1:c.2182C>A XP_011516349.1:p.Leu728Met
XM_011518048.1:c.2182C>A XP_011516350.1:p.Leu728Met
XM_011518049.1:c.622C>A XP_011516351.1:p.Leu208Met
XM_011518045.3:c.2182C>A XP_011516347.1:p.Leu728Met
XM_011518046.2:c.2248C>A XP_011516348.1:p.Leu750Met
XM_011518047.3:c.2182C>A XP_011516349.1:p.Leu728Met
XM_011518048.2:c.2182C>A XP_011516350.1:p.Leu728Met
XM_011518049.2:c.622C>A XP_011516351.1:p.Leu208Met
XM_017015173.1:c.2182C>A XP_016870662.1:p.Leu728Met
XM_017015174.1:c.2248C>A XP_016870663.1:p.Leu750Met
NM_001190458.2:c.2182C>A NP_001177387.1:p.Leu728Met
NM_001193536.2:c.2182C>A NP_001180465.1:p.Leu728Met
NM_203447.4:c.2386C>A MANE Select NP_982272.2:p.Leu796Met