Canonical Allele Identifier: CA4958202

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.379774A>C , CM000671.2:g.379774A>C	GRCh38
NC_000009.11:g.379774A>C , CM000671.1:g.379774A>C	GRCh37
NC_000009.10:g.369774A>C	NCBI36
NG_017007.1:g.169910A>C , LRG_196:g.169910A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.2444A>C MANE Select	NP_982272.2:p.Asn815Thr
ENST00000432829.7:c.2444A>C MANE Select	ENSP00000394888.3:p.Asn815Thr
NM_001190458.1:c.2240A>C	NP_001177387.1:p.Asn747Thr
NM_001190458.2:c.2240A>C	NP_001177387.1:p.Asn747Thr
NM_001193536.1:c.2240A>C	NP_001180465.1:p.Asn747Thr
NM_001193536.2:c.2240A>C	NP_001180465.1:p.Asn747Thr
NM_203447.3:c.2444A>C , LRG_196t1:c.2444A>C	NP_982272.2:p.Asn815Thr
ENST00000382329.1:c.845A>C	ENSP00000371766.1:p.Asn282Thr
ENST00000382329.2:c.2240A>C	ENSP00000371766.2:p.Asn747Thr
ENST00000382331.5:c.350A>C	ENSP00000371768.1:p.Asn117Thr
ENST00000382331.6:n.941A>C
ENST00000432829.6:c.2444A>C	ENSP00000394888.3:p.Asn815Thr
ENST00000453981.5:c.2240A>C	ENSP00000408464.2:p.Asn747Thr
ENST00000469391.5:c.2240A>C	ENSP00000419438.1:p.Asn747Thr
ENST00000483757.5:c.*1919A>C	ENSP00000417691.1:n.*1919A>C
ENST00000483757.6:c.*1131A>C	ENSP00000417691.2:n.*1131A>C
ENST00000495184.5:n.4399A>C
ENST00000682260.1:n.2340A>C
ENST00000685949.1:n.1232A>C
XM_011518045.1:c.2240A>C	XP_011516347.1:p.Asn747Thr
XM_011518045.3:c.2240A>C	XP_011516347.1:p.Asn747Thr
XM_011518046.1:c.2306A>C	XP_011516348.1:p.Asn769Thr
XM_011518046.2:c.2306A>C	XP_011516348.1:p.Asn769Thr
XM_011518047.1:c.2240A>C	XP_011516349.1:p.Asn747Thr
XM_011518047.3:c.2240A>C	XP_011516349.1:p.Asn747Thr
XM_011518048.1:c.2240A>C	XP_011516350.1:p.Asn747Thr
XM_011518048.2:c.2240A>C	XP_011516350.1:p.Asn747Thr
XM_011518049.1:c.680A>C	XP_011516351.1:p.Asn227Thr
XM_011518049.2:c.680A>C	XP_011516351.1:p.Asn227Thr
XM_017015173.1:c.2240A>C	XP_016870662.1:p.Asn747Thr
XM_017015174.1:c.2306A>C	XP_016870663.1:p.Asn769Thr