Canonical Allele Identifier: CA372755969

Gene: DOCK8

Linked Data

• dbSNP Id: rs750973745
• MyVariant Identifiers: chr9:g.286500G>C (hg19) ; chr9:g.286500G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.286500G>C , CM000671.2:g.286500G>C	GRCh38
NC_000009.11:g.286500G>C , CM000671.1:g.286500G>C	GRCh37
NC_000009.10:g.276500G>C	NCBI36
NG_017007.1:g.76636G>C , LRG_196:g.76636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.-9G>C	ENSP00000371766.2:n.-9G>C
ENST00000483757.6:c.-9G>C	ENSP00000417691.2:n.-9G>C
ENST00000682121.1:n.205G>C
ENST00000682249.1:c.-9G>C	ENSP00000507731.1:n.-9G>C
ENST00000684166.1:n.305G>C
ENST00000684384.1:n.305G>C
ENST00000432829.7:c.196G>C MANE Select	ENSP00000394888.3:p.Gly66Arg
ENST00000382341.5:n.91G>C
ENST00000432829.6:c.196G>C	ENSP00000394888.3:p.Gly66Arg
ENST00000453981.5:c.-9G>C	ENSP00000408464.2:n.-9G>C
ENST00000454469.6:n.305G>C
ENST00000469197.5:c.*281G>C	ENSP00000418587.1:n.*281G>C
ENST00000469391.5:c.-9G>C	ENSP00000419438.1:n.-9G>C
ENST00000478380.5:n.75G>C
ENST00000479404.5:c.-9G>C	ENSP00000417082.1:n.-9G>C
ENST00000483757.5:c.-9G>C	ENSP00000417691.1:n.-9G>C
ENST00000487230.5:c.-9G>C	ENSP00000418318.1:n.-9G>C
ENST00000495184.5:n.57G>C
ENST00000524396.5:c.*159G>C	ENSP00000436628.1:n.*159G>C
NM_001190458.1:c.-9G>C	NP_001177387.1:n.-9G>C
NM_001193536.1:c.-9G>C	NP_001180465.1:n.-9G>C
NM_203447.3:c.196G>C , LRG_196t1:c.196G>C	NP_982272.2:p.Gly66Arg
XM_011518045.1:c.-9G>C	XP_011516347.1:n.-9G>C
XM_011518046.1:c.58G>C	XP_011516348.1:p.Gly20Arg
XM_011518047.1:c.-9G>C	XP_011516349.1:n.-9G>C
XM_011518048.1:c.-9G>C	XP_011516350.1:n.-9G>C
XM_011518045.3:c.-9G>C	XP_011516347.1:n.-9G>C
XM_011518046.2:c.58G>C	XP_011516348.1:p.Gly20Arg
XM_011518047.3:c.-9G>C	XP_011516349.1:n.-9G>C
XM_011518048.2:c.-9G>C	XP_011516350.1:n.-9G>C
XM_017015173.1:c.-9G>C	XP_016870662.1:n.-9G>C
XM_017015174.1:c.58G>C	XP_016870663.1:p.Gly20Arg
NM_001190458.2:c.-9G>C	NP_001177387.1:n.-9G>C
NM_001193536.2:c.-9G>C	NP_001180465.1:n.-9G>C
NM_203447.4:c.196G>C MANE Select	NP_982272.2:p.Gly66Arg