Canonical Allele Identifier: CA372761101

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.370301G>A , CM000671.2:g.370301G>A	GRCh38
NC_000009.11:g.370301G>A , CM000671.1:g.370301G>A	GRCh37
NC_000009.10:g.360301G>A	NCBI36
NG_017007.1:g.160437G>A , LRG_196:g.160437G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.1868+1G>A MANE Select	NP_982272.2:n.1868+1G>A
ENST00000432829.7:c.1868+1G>A MANE Select	ENSP00000394888.3:n.1868+1G>A
NM_001190458.1:c.1664+1G>A	NP_001177387.1:n.1664+1G>A
NM_001190458.2:c.1664+1G>A	NP_001177387.1:n.1664+1G>A
NM_001193536.1:c.1664+1G>A	NP_001180465.1:n.1664+1G>A
NM_001193536.2:c.1664+1G>A	NP_001180465.1:n.1664+1G>A
NM_203447.3:c.1868+1G>A , LRG_196t1:c.1868+1G>A	NP_982272.2:n.1868+1G>A
ENST00000382329.1:c.269+1G>A	ENSP00000371766.1:n.269+1G>A
ENST00000382329.2:c.1664+1G>A	ENSP00000371766.2:n.1664+1G>A
ENST00000382331.5:c.-88+1G>A	ENSP00000371768.1:n.-88+1G>A
ENST00000382331.6:n.504+1G>A
ENST00000432829.6:c.1868+1G>A	ENSP00000394888.3:n.1868+1G>A
ENST00000453981.5:c.1664+1G>A	ENSP00000408464.2:n.1664+1G>A
ENST00000469391.5:c.1664+1G>A	ENSP00000419438.1:n.1664+1G>A
ENST00000483757.5:c.*1343+1G>A	ENSP00000417691.1:n.*1343+1G>A
ENST00000483757.6:c.*555+1G>A	ENSP00000417691.2:n.*555+1G>A
ENST00000495184.5:n.3823+1G>A
ENST00000682260.1:n.638G>A
ENST00000685949.1:n.656+1G>A
XM_011518045.1:c.1664+1G>A	XP_011516347.1:n.1664+1G>A
XM_011518045.3:c.1664+1G>A	XP_011516347.1:n.1664+1G>A
XM_011518046.1:c.1730+1G>A	XP_011516348.1:n.1730+1G>A
XM_011518046.2:c.1730+1G>A	XP_011516348.1:n.1730+1G>A
XM_011518047.1:c.1664+1G>A	XP_011516349.1:n.1664+1G>A
XM_011518047.3:c.1664+1G>A	XP_011516349.1:n.1664+1G>A
XM_011518048.1:c.1664+1G>A	XP_011516350.1:n.1664+1G>A
XM_011518048.2:c.1664+1G>A	XP_011516350.1:n.1664+1G>A
XM_011518049.1:c.104+1G>A	XP_011516351.1:n.104+1G>A
XM_011518049.2:c.104+1G>A	XP_011516351.1:n.104+1G>A
XM_017015173.1:c.1664+1G>A	XP_016870662.1:n.1664+1G>A
XM_017015174.1:c.1730+1G>A	XP_016870663.1:n.1730+1G>A