Canonical Allele Identifier: CA4957326

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.312005G>A , CM000671.2:g.312005G>A	GRCh38
NC_000009.11:g.312005G>A , CM000671.1:g.312005G>A	GRCh37
NC_000009.10:g.302005G>A	NCBI36
NG_017007.1:g.102141G>A , LRG_196:g.102141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.376G>A	ENSP00000371766.2:p.Val126Ile
ENST00000474772.2:n.26G>A
ENST00000483757.6:c.376G>A	ENSP00000417691.2:p.Val126Ile
ENST00000682249.1:c.376G>A	ENSP00000507731.1:p.Val126Ile
ENST00000684384.1:n.689G>A
ENST00000432829.7:c.580G>A MANE Select	ENSP00000394888.3:p.Val194Ile
ENST00000382341.5:n.475G>A
ENST00000432829.6:c.580G>A	ENSP00000394888.3:p.Val194Ile
ENST00000453981.5:c.376G>A	ENSP00000408464.2:p.Val126Ile
ENST00000454469.6:n.689G>A
ENST00000469391.5:c.376G>A	ENSP00000419438.1:p.Val126Ile
ENST00000474772.1:n.48G>A
ENST00000478380.5:n.459G>A
ENST00000483757.5:c.376G>A	ENSP00000417691.1:p.Val126Ile
ENST00000495184.5:n.441G>A
ENST00000524396.5:c.*543G>A	ENSP00000436628.1:n.*543G>A
NM_001190458.1:c.376G>A	NP_001177387.1:p.Val126Ile
NM_001193536.1:c.376G>A	NP_001180465.1:p.Val126Ile
NM_203447.3:c.580G>A , LRG_196t1:c.580G>A	NP_982272.2:p.Val194Ile
XM_011518045.1:c.376G>A	XP_011516347.1:p.Val126Ile
XM_011518046.1:c.442G>A	XP_011516348.1:p.Val148Ile
XM_011518047.1:c.376G>A	XP_011516349.1:p.Val126Ile
XM_011518048.1:c.376G>A	XP_011516350.1:p.Val126Ile
XM_011518045.3:c.376G>A	XP_011516347.1:p.Val126Ile
XM_011518046.2:c.442G>A	XP_011516348.1:p.Val148Ile
XM_011518047.3:c.376G>A	XP_011516349.1:p.Val126Ile
XM_011518048.2:c.376G>A	XP_011516350.1:p.Val126Ile
XM_017015173.1:c.376G>A	XP_016870662.1:p.Val126Ile
XM_017015174.1:c.442G>A	XP_016870663.1:p.Val148Ile
NM_001190458.2:c.376G>A	NP_001177387.1:p.Val126Ile
NM_001193536.2:c.376G>A	NP_001180465.1:p.Val126Ile
NM_203447.4:c.580G>A MANE Select	NP_982272.2:p.Val194Ile