Canonical Allele Identifier: CA372761052
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-414922-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.414922A>T , CM000671.2:g.414922A>T GRCh38
NC_000009.11:g.414922A>T , CM000671.1:g.414922A>T GRCh37
NC_000009.10:g.404922A>T NCBI36
NG_017007.1:g.205058A>T , LRG_196:g.205058A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.3371A>T ENSP00000371766.2:p.Asp1124Val
ENST00000683406.1:n.192A>T
ENST00000685949.1:n.2459A>T
ENST00000432829.7:c.3671A>T MANE Select ENSP00000394888.3:p.Asp1224Val
ENST00000382329.1:c.2072A>T ENSP00000371766.1:p.Asp691Val
ENST00000432829.6:c.3671A>T ENSP00000394888.3:p.Asp1224Val
ENST00000453981.5:c.3467A>T ENSP00000408464.2:p.Asp1156Val
ENST00000469391.5:c.3371A>T ENSP00000419438.1:p.Asp1124Val
ENST00000495184.5:n.5626A>T
NM_001190458.1:c.3371A>T NP_001177387.1:p.Asp1124Val
NM_001193536.1:c.3467A>T NP_001180465.1:p.Asp1156Val
NM_203447.3:c.3671A>T , LRG_196t1:c.3671A>T NP_982272.2:p.Asp1224Val
XM_011518045.1:c.3371A>T XP_011516347.1:p.Asp1124Val
XM_011518046.1:c.3533A>T XP_011516348.1:p.Asp1178Val
XM_011518047.1:c.3467A>T XP_011516349.1:p.Asp1156Val
XM_011518048.1:c.3467A>T XP_011516350.1:p.Asp1156Val
XM_011518049.1:c.1907A>T XP_011516351.1:p.Asp636Val
XM_011518045.3:c.3371A>T XP_011516347.1:p.Asp1124Val
XM_011518046.2:c.3533A>T XP_011516348.1:p.Asp1178Val
XM_011518047.3:c.3467A>T XP_011516349.1:p.Asp1156Val
XM_011518048.2:c.3467A>T XP_011516350.1:p.Asp1156Val
XM_011518049.2:c.1907A>T XP_011516351.1:p.Asp636Val
XM_017015173.1:c.3467A>T XP_016870662.1:p.Asp1156Val
XM_017015174.1:c.3533A>T XP_016870663.1:p.Asp1178Val
NM_001190458.2:c.3371A>T NP_001177387.1:p.Asp1124Val
NM_001193536.2:c.3467A>T NP_001180465.1:p.Asp1156Val
NM_203447.4:c.3671A>T MANE Select NP_982272.2:p.Asp1224Val