Canonical Allele Identifier: CA372769824
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452101A>G , CM000671.2:g.452101A>G GRCh38
NC_000009.11:g.452101A>G , CM000671.1:g.452101A>G GRCh37
NC_000009.10:g.442101A>G NCBI36
NG_017007.1:g.242237A>G , LRG_196:g.242237A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5752A>G ENSP00000371766.2:p.Lys1918Glu
ENST00000683406.1:n.2527A>G
ENST00000684637.1:n.1733A>G
ENST00000685949.1:n.4840A>G
ENST00000432829.7:c.6052A>G MANE Select ENSP00000394888.3:p.Lys2018Glu
ENST00000382329.1:c.4453A>G ENSP00000371766.1:p.Lys1485Glu
ENST00000432829.6:c.6052A>G ENSP00000394888.3:p.Lys2018Glu
ENST00000453981.5:c.5848A>G ENSP00000408464.2:p.Lys1950Glu
ENST00000469391.5:c.5752A>G ENSP00000419438.1:p.Lys1918Glu
ENST00000495184.5:n.8007A>G
NM_001190458.1:c.5752A>G NP_001177387.1:p.Lys1918Glu
NM_001193536.1:c.5848A>G NP_001180465.1:p.Lys1950Glu
NM_203447.3:c.6052A>G , LRG_196t1:c.6052A>G NP_982272.2:p.Lys2018Glu
XM_011518045.1:c.5752A>G XP_011516347.1:p.Lys1918Glu
XM_011518046.1:c.5914A>G XP_011516348.1:p.Lys1972Glu
XM_011518047.1:c.5848A>G XP_011516349.1:p.Lys1950Glu
XM_011518048.1:c.5848A>G XP_011516350.1:p.Lys1950Glu
XM_011518049.1:c.4288A>G XP_011516351.1:p.Lys1430Glu
XM_011518045.3:c.5752A>G XP_011516347.1:p.Lys1918Glu
XM_011518046.2:c.5914A>G XP_011516348.1:p.Lys1972Glu
XM_011518047.3:c.5848A>G XP_011516349.1:p.Lys1950Glu
XM_011518048.2:c.5848A>G XP_011516350.1:p.Lys1950Glu
XM_011518049.2:c.4288A>G XP_011516351.1:p.Lys1430Glu
XM_017015173.1:c.5848A>G XP_016870662.1:p.Lys1950Glu
XM_017015174.1:c.5914A>G XP_016870663.1:p.Lys1972Glu
NM_001190458.2:c.5752A>G NP_001177387.1:p.Lys1918Glu
NM_001193536.2:c.5848A>G NP_001180465.1:p.Lys1950Glu
NM_203447.4:c.6052A>G MANE Select NP_982272.2:p.Lys2018Glu