Canonical Allele Identifier: CA1826891843
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.418086A= , CM000671.2:g.418086A= GRCh38
NC_000009.11:g.418086A= , CM000671.1:g.418086A= GRCh37
NC_000009.10:g.408086A= NCBI36
NG_017007.1:g.208222A= , LRG_196:g.208222A=

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.3419A= ENSP00000371766.2:p.Tyr1140=
ENST00000683406.1:n.240A=
ENST00000685949.1:n.2507A=
ENST00000432829.7:c.3719A= MANE Select ENSP00000394888.3:p.Tyr1240=
ENST00000382329.1:c.2120A= ENSP00000371766.1:p.Tyr707=
ENST00000432829.6:c.3719A= ENSP00000394888.3:p.Tyr1240=
ENST00000453981.5:c.3515A= ENSP00000408464.2:p.Tyr1172=
ENST00000469391.5:c.3419A= ENSP00000419438.1:p.Tyr1140=
ENST00000495184.5:n.5674A=
NM_001190458.1:c.3419A= NP_001177387.1:p.Tyr1140=
NM_001193536.1:c.3515A= NP_001180465.1:p.Tyr1172=
NM_203447.3:c.3719A= , LRG_196t1:c.3719A= NP_982272.2:p.Tyr1240=
XM_011518045.1:c.3419A= XP_011516347.1:p.Tyr1140=
XM_011518046.1:c.3581A= XP_011516348.1:p.Tyr1194=
XM_011518047.1:c.3515A= XP_011516349.1:p.Tyr1172=
XM_011518048.1:c.3515A= XP_011516350.1:p.Tyr1172=
XM_011518049.1:c.1955A= XP_011516351.1:p.Tyr652=
XM_011518045.3:c.3419A= XP_011516347.1:p.Tyr1140=
XM_011518046.2:c.3581A= XP_011516348.1:p.Tyr1194=
XM_011518047.3:c.3515A= XP_011516349.1:p.Tyr1172=
XM_011518048.2:c.3515A= XP_011516350.1:p.Tyr1172=
XM_011518049.2:c.1955A= XP_011516351.1:p.Tyr652=
XM_017015173.1:c.3515A= XP_016870662.1:p.Tyr1172=
XM_017015174.1:c.3581A= XP_016870663.1:p.Tyr1194=
NM_001190458.2:c.3419A= NP_001177387.1:p.Tyr1140=
NM_001193536.2:c.3515A= NP_001180465.1:p.Tyr1172=
NM_203447.4:c.3719A= MANE Select NP_982272.2:p.Tyr1240=