Canonical Allele Identifier: CA249195

Gene: DOCK8

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.396872A>G , CM000671.2:g.396872A>G	GRCh38
NC_000009.11:g.396872A>G , CM000671.1:g.396872A>G	GRCh37
NC_000009.10:g.386872A>G	NCBI36
NG_017007.1:g.187008A>G , LRG_196:g.187008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2758A>G	ENSP00000371766.2:p.Ile920Val
ENST00000382331.6:n.1555A>G
ENST00000682260.1:n.2954A>G
ENST00000685949.1:n.1846A>G
ENST00000432829.7:c.3058A>G MANE Select	ENSP00000394888.3:p.Ile1020Val
ENST00000382329.1:c.1459A>G	ENSP00000371766.1:p.Ile487Val
ENST00000382331.5:c.964A>G	ENSP00000371768.1:p.Ile322Val
ENST00000432829.6:c.3058A>G	ENSP00000394888.3:p.Ile1020Val
ENST00000453981.5:c.2854A>G	ENSP00000408464.2:p.Ile952Val
ENST00000469391.5:c.2758A>G	ENSP00000419438.1:p.Ile920Val
ENST00000495184.5:n.5013A>G
NM_001190458.1:c.2758A>G	NP_001177387.1:p.Ile920Val
NM_001193536.1:c.2854A>G	NP_001180465.1:p.Ile952Val
NM_203447.3:c.3058A>G , LRG_196t1:c.3058A>G	NP_982272.2:p.Ile1020Val
XM_011518045.1:c.2758A>G	XP_011516347.1:p.Ile920Val
XM_011518046.1:c.2920A>G	XP_011516348.1:p.Ile974Val
XM_011518047.1:c.2854A>G	XP_011516349.1:p.Ile952Val
XM_011518048.1:c.2854A>G	XP_011516350.1:p.Ile952Val
XM_011518049.1:c.1294A>G	XP_011516351.1:p.Ile432Val
XM_011518045.3:c.2758A>G	XP_011516347.1:p.Ile920Val
XM_011518046.2:c.2920A>G	XP_011516348.1:p.Ile974Val
XM_011518047.3:c.2854A>G	XP_011516349.1:p.Ile952Val
XM_011518048.2:c.2854A>G	XP_011516350.1:p.Ile952Val
XM_011518049.2:c.1294A>G	XP_011516351.1:p.Ile432Val
XM_017015173.1:c.2854A>G	XP_016870662.1:p.Ile952Val
XM_017015174.1:c.2920A>G	XP_016870663.1:p.Ile974Val
NM_001190458.2:c.2758A>G	NP_001177387.1:p.Ile920Val
NM_001193536.2:c.2854A>G	NP_001180465.1:p.Ile952Val
NM_203447.4:c.3058A>G MANE Select	NP_982272.2:p.Ile1020Val