Canonical Allele Identifier: CA4959323

Gene: DOCK8

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.439320G>A , CM000671.2:g.439320G>A	GRCh38
NC_000009.11:g.439320G>A , CM000671.1:g.439320G>A	GRCh37
NC_000009.10:g.429320G>A	NCBI36
NG_017007.1:g.229456G>A , LRG_196:g.229456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.4855G>A	ENSP00000371766.2:p.Ala1619Thr
ENST00000683406.1:n.1630G>A
ENST00000685949.1:n.3943G>A
ENST00000432829.7:c.5155G>A MANE Select	ENSP00000394888.3:p.Ala1719Thr
ENST00000382329.1:c.3556G>A	ENSP00000371766.1:p.Ala1186Thr
ENST00000432829.6:c.5155G>A	ENSP00000394888.3:p.Ala1719Thr
ENST00000453981.5:c.4951G>A	ENSP00000408464.2:p.Ala1651Thr
ENST00000469391.5:c.4855G>A	ENSP00000419438.1:p.Ala1619Thr
ENST00000495184.5:n.7110G>A
NM_001190458.1:c.4855G>A	NP_001177387.1:p.Ala1619Thr
NM_001193536.1:c.4951G>A	NP_001180465.1:p.Ala1651Thr
NM_203447.3:c.5155G>A , LRG_196t1:c.5155G>A	NP_982272.2:p.Ala1719Thr
XM_011518045.1:c.4855G>A	XP_011516347.1:p.Ala1619Thr
XM_011518046.1:c.5017G>A	XP_011516348.1:p.Ala1673Thr
XM_011518047.1:c.4951G>A	XP_011516349.1:p.Ala1651Thr
XM_011518048.1:c.4951G>A	XP_011516350.1:p.Ala1651Thr
XM_011518049.1:c.3391G>A	XP_011516351.1:p.Ala1131Thr
XM_011518045.3:c.4855G>A	XP_011516347.1:p.Ala1619Thr
XM_011518046.2:c.5017G>A	XP_011516348.1:p.Ala1673Thr
XM_011518047.3:c.4951G>A	XP_011516349.1:p.Ala1651Thr
XM_011518048.2:c.4951G>A	XP_011516350.1:p.Ala1651Thr
XM_011518049.2:c.3391G>A	XP_011516351.1:p.Ala1131Thr
XM_017015173.1:c.4951G>A	XP_016870662.1:p.Ala1651Thr
XM_017015174.1:c.5017G>A	XP_016870663.1:p.Ala1673Thr
NM_001190458.2:c.4855G>A	NP_001177387.1:p.Ala1619Thr
NM_001193536.2:c.4951G>A	NP_001180465.1:p.Ala1651Thr
NM_203447.4:c.5155G>A MANE Select	NP_982272.2:p.Ala1719Thr