Canonical Allele Identifier: CA187758124

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.271710G>A , CM000671.2:g.271710G>A	GRCh38
NC_000009.11:g.271710G>A , CM000671.1:g.271710G>A	GRCh37
NC_000009.10:g.261710G>A	NCBI36
NG_017007.1:g.61846G>A , LRG_196:g.61846G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.137G>A MANE Select	NP_982272.2:p.Gly46Asp
ENST00000432829.7:c.137G>A MANE Select	ENSP00000394888.3:p.Gly46Asp
NM_203447.3:c.137G>A , LRG_196t1:c.137G>A	NP_982272.2:p.Gly46Asp
ENST00000382329.2:c.-68G>A	ENSP00000371766.2:n.-68G>A
ENST00000432829.6:c.137G>A	ENSP00000394888.3:p.Gly46Asp
ENST00000454469.6:n.246G>A
ENST00000469197.5:c.137G>A	ENSP00000418587.1:p.Gly46Asp
ENST00000479404.5:c.-68G>A	ENSP00000417082.1:n.-68G>A
ENST00000524396.5:c.*100G>A	ENSP00000436628.1:n.*100G>A
ENST00000682121.1:n.166-14751G>A
ENST00000684166.1:n.246G>A
ENST00000684384.1:n.246G>A
XM_011518045.1:c.-68G>A	XP_011516347.1:n.-68G>A
XM_011518045.3:c.-68G>A	XP_011516347.1:n.-68G>A
XM_011518047.1:c.-68G>A	XP_011516349.1:n.-68G>A
XM_011518047.3:c.-68G>A	XP_011516349.1:n.-68G>A
XM_017015173.1:c.-68G>A	XP_016870662.1:n.-68G>A
XR_929404.1:n.88+1195C>T
XR_929406.1:n.1333+2574C>T