Canonical Allele Identifier: CA372769836
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452106A>C , CM000671.2:g.452106A>C GRCh38
NC_000009.11:g.452106A>C , CM000671.1:g.452106A>C GRCh37
NC_000009.10:g.442106A>C NCBI36
NG_017007.1:g.242242A>C , LRG_196:g.242242A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5757A>C ENSP00000371766.2:p.Glu1919Asp
ENST00000683406.1:n.2532A>C
ENST00000684637.1:n.1738A>C
ENST00000685949.1:n.4845A>C
ENST00000432829.7:c.6057A>C MANE Select ENSP00000394888.3:p.Glu2019Asp
ENST00000382329.1:c.4458A>C ENSP00000371766.1:p.Glu1486Asp
ENST00000432829.6:c.6057A>C ENSP00000394888.3:p.Glu2019Asp
ENST00000453981.5:c.5853A>C ENSP00000408464.2:p.Glu1951Asp
ENST00000469391.5:c.5757A>C ENSP00000419438.1:p.Glu1919Asp
ENST00000495184.5:n.8012A>C
NM_001190458.1:c.5757A>C NP_001177387.1:p.Glu1919Asp
NM_001193536.1:c.5853A>C NP_001180465.1:p.Glu1951Asp
NM_203447.3:c.6057A>C , LRG_196t1:c.6057A>C NP_982272.2:p.Glu2019Asp
XM_011518045.1:c.5757A>C XP_011516347.1:p.Glu1919Asp
XM_011518046.1:c.5919A>C XP_011516348.1:p.Glu1973Asp
XM_011518047.1:c.5853A>C XP_011516349.1:p.Glu1951Asp
XM_011518048.1:c.5853A>C XP_011516350.1:p.Glu1951Asp
XM_011518049.1:c.4293A>C XP_011516351.1:p.Glu1431Asp
XM_011518045.3:c.5757A>C XP_011516347.1:p.Glu1919Asp
XM_011518046.2:c.5919A>C XP_011516348.1:p.Glu1973Asp
XM_011518047.3:c.5853A>C XP_011516349.1:p.Glu1951Asp
XM_011518048.2:c.5853A>C XP_011516350.1:p.Glu1951Asp
XM_011518049.2:c.4293A>C XP_011516351.1:p.Glu1431Asp
XM_017015173.1:c.5853A>C XP_016870662.1:p.Glu1951Asp
XM_017015174.1:c.5919A>C XP_016870663.1:p.Glu1973Asp
NM_001190458.2:c.5757A>C NP_001177387.1:p.Glu1919Asp
NM_001193536.2:c.5853A>C NP_001180465.1:p.Glu1951Asp
NM_203447.4:c.6057A>C MANE Select NP_982272.2:p.Glu2019Asp