Canonical Allele Identifier: CA4957308

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.311963C>T , CM000671.2:g.311963C>T	GRCh38
NC_000009.11:g.311963C>T , CM000671.1:g.311963C>T	GRCh37
NC_000009.10:g.301963C>T	NCBI36
NG_017007.1:g.102099C>T , LRG_196:g.102099C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.538C>T MANE Select	NP_982272.2:p.Arg180Cys
ENST00000432829.7:c.538C>T MANE Select	ENSP00000394888.3:p.Arg180Cys
NM_001190458.1:c.334C>T	NP_001177387.1:p.Arg112Cys
NM_001190458.2:c.334C>T	NP_001177387.1:p.Arg112Cys
NM_001193536.1:c.334C>T	NP_001180465.1:p.Arg112Cys
NM_001193536.2:c.334C>T	NP_001180465.1:p.Arg112Cys
NM_203447.3:c.538C>T , LRG_196t1:c.538C>T	NP_982272.2:p.Arg180Cys
ENST00000382329.2:c.334C>T	ENSP00000371766.2:p.Arg112Cys
ENST00000382341.5:n.433C>T
ENST00000432829.6:c.538C>T	ENSP00000394888.3:p.Arg180Cys
ENST00000453981.5:c.334C>T	ENSP00000408464.2:p.Arg112Cys
ENST00000454469.6:n.647C>T
ENST00000469391.5:c.334C>T	ENSP00000419438.1:p.Arg112Cys
ENST00000474772.1:n.6C>T
ENST00000478380.5:n.417C>T
ENST00000483757.5:c.334C>T	ENSP00000417691.1:p.Arg112Cys
ENST00000483757.6:c.334C>T	ENSP00000417691.2:p.Arg112Cys
ENST00000495184.5:n.399C>T
ENST00000524396.5:c.*501C>T	ENSP00000436628.1:n.*501C>T
ENST00000682249.1:c.334C>T	ENSP00000507731.1:p.Arg112Cys
ENST00000684384.1:n.647C>T
XM_011518045.1:c.334C>T	XP_011516347.1:p.Arg112Cys
XM_011518045.3:c.334C>T	XP_011516347.1:p.Arg112Cys
XM_011518046.1:c.400C>T	XP_011516348.1:p.Arg134Cys
XM_011518046.2:c.400C>T	XP_011516348.1:p.Arg134Cys
XM_011518047.1:c.334C>T	XP_011516349.1:p.Arg112Cys
XM_011518047.3:c.334C>T	XP_011516349.1:p.Arg112Cys
XM_011518048.1:c.334C>T	XP_011516350.1:p.Arg112Cys
XM_011518048.2:c.334C>T	XP_011516350.1:p.Arg112Cys
XM_017015173.1:c.334C>T	XP_016870662.1:p.Arg112Cys
XM_017015174.1:c.400C>T	XP_016870663.1:p.Arg134Cys