Canonical Allele Identifier: CA4959688

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.463568G>A , CM000671.2:g.463568G>A	GRCh38
NC_000009.11:g.463568G>A , CM000671.1:g.463568G>A	GRCh37
NC_000009.10:g.453568G>A	NCBI36
NG_017007.1:g.253704G>A , LRG_196:g.253704G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.6120G>A MANE Select	NP_982272.2:p.Arg2040=
ENST00000432829.7:c.6120G>A MANE Select	ENSP00000394888.3:p.Arg2040=
NM_001190458.1:c.5820G>A	NP_001177387.1:p.Arg1940=
NM_001190458.2:c.5820G>A	NP_001177387.1:p.Arg1940=
NM_001193536.1:c.5916G>A	NP_001180465.1:p.Arg1972=
NM_001193536.2:c.5916G>A	NP_001180465.1:p.Arg1972=
NM_203447.3:c.6120G>A , LRG_196t1:c.6120G>A	NP_982272.2:p.Arg2040=
ENST00000382329.1:c.4521G>A	ENSP00000371766.1:p.Arg1507=
ENST00000432829.6:c.6120G>A	ENSP00000394888.3:p.Arg2040=
ENST00000453981.5:c.5916G>A	ENSP00000408464.2:p.Arg1972=
ENST00000462618.1:n.14G>A
ENST00000469391.5:c.5820G>A	ENSP00000419438.1:p.Arg1940=
ENST00000495184.5:n.8075G>A
ENST00000683406.1:n.2595G>A
ENST00000684637.1:n.1801G>A
ENST00000685949.1:n.4908G>A
XM_011518045.1:c.5820G>A	XP_011516347.1:p.Arg1940=
XM_011518045.3:c.5820G>A	XP_011516347.1:p.Arg1940=
XM_011518046.1:c.5982G>A	XP_011516348.1:p.Arg1994=
XM_011518046.2:c.5982G>A	XP_011516348.1:p.Arg1994=
XM_011518047.1:c.5916G>A	XP_011516349.1:p.Arg1972=
XM_011518047.3:c.5916G>A	XP_011516349.1:p.Arg1972=
XM_011518048.1:c.5916G>A	XP_011516350.1:p.Arg1972=
XM_011518048.2:c.5916G>A	XP_011516350.1:p.Arg1972=
XM_011518049.1:c.4356G>A	XP_011516351.1:p.Arg1452=
XM_011518049.2:c.4356G>A	XP_011516351.1:p.Arg1452=
XM_017015173.1:c.5916G>A	XP_016870662.1:p.Arg1972=
XM_017015174.1:c.5982G>A	XP_016870663.1:p.Arg1994=
XR_929397.1:n.919+2394C>T
XR_929398.1:n.526+2394C>T