Canonical Allele Identifier: CA372763326
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs1251716138
gnomAD v4: 9-377121-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377121C>G , CM000671.2:g.377121C>G GRCh38
NC_000009.11:g.377121C>G , CM000671.1:g.377121C>G GRCh37
NC_000009.10:g.367121C>G NCBI36
NG_017007.1:g.167257C>G , LRG_196:g.167257C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2146C>G ENSP00000371766.2:p.Arg716Gly
ENST00000382331.6:n.847C>G
ENST00000483757.6:c.*1037C>G ENSP00000417691.2:n.*1037C>G
ENST00000682260.1:n.2246C>G
ENST00000685949.1:n.1138C>G
ENST00000432829.7:c.2350C>G MANE Select ENSP00000394888.3:p.Arg784Gly
ENST00000382329.1:c.751C>G ENSP00000371766.1:p.Arg251Gly
ENST00000382331.5:c.256C>G ENSP00000371768.1:p.Arg86Gly
ENST00000432829.6:c.2350C>G ENSP00000394888.3:p.Arg784Gly
ENST00000453981.5:c.2146C>G ENSP00000408464.2:p.Arg716Gly
ENST00000469391.5:c.2146C>G ENSP00000419438.1:p.Arg716Gly
ENST00000483757.5:c.*1825C>G ENSP00000417691.1:n.*1825C>G
ENST00000495184.5:n.4305C>G
NM_001190458.1:c.2146C>G NP_001177387.1:p.Arg716Gly
NM_001193536.1:c.2146C>G NP_001180465.1:p.Arg716Gly
NM_203447.3:c.2350C>G , LRG_196t1:c.2350C>G NP_982272.2:p.Arg784Gly
XM_011518045.1:c.2146C>G XP_011516347.1:p.Arg716Gly
XM_011518046.1:c.2212C>G XP_011516348.1:p.Arg738Gly
XM_011518047.1:c.2146C>G XP_011516349.1:p.Arg716Gly
XM_011518048.1:c.2146C>G XP_011516350.1:p.Arg716Gly
XM_011518049.1:c.586C>G XP_011516351.1:p.Arg196Gly
XM_011518045.3:c.2146C>G XP_011516347.1:p.Arg716Gly
XM_011518046.2:c.2212C>G XP_011516348.1:p.Arg738Gly
XM_011518047.3:c.2146C>G XP_011516349.1:p.Arg716Gly
XM_011518048.2:c.2146C>G XP_011516350.1:p.Arg716Gly
XM_011518049.2:c.586C>G XP_011516351.1:p.Arg196Gly
XM_017015173.1:c.2146C>G XP_016870662.1:p.Arg716Gly
XM_017015174.1:c.2212C>G XP_016870663.1:p.Arg738Gly
NM_001190458.2:c.2146C>G NP_001177387.1:p.Arg716Gly
NM_001193536.2:c.2146C>G NP_001180465.1:p.Arg716Gly
NM_203447.4:c.2350C>G MANE Select NP_982272.2:p.Arg784Gly