Canonical Allele Identifier: CA4957876

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.368120T>C , CM000671.2:g.368120T>C	GRCh38
NC_000009.11:g.368120T>C , CM000671.1:g.368120T>C	GRCh37
NC_000009.10:g.358120T>C	NCBI36
NG_017007.1:g.158256T>C , LRG_196:g.158256T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.1782T>C MANE Select	NP_982272.2:p.Ala594=
ENST00000432829.7:c.1782T>C MANE Select	ENSP00000394888.3:p.Ala594=
NM_001190458.1:c.1578T>C	NP_001177387.1:p.Ala526=
NM_001190458.2:c.1578T>C	NP_001177387.1:p.Ala526=
NM_001193536.1:c.1578T>C	NP_001180465.1:p.Ala526=
NM_001193536.2:c.1578T>C	NP_001180465.1:p.Ala526=
NM_203447.3:c.1782T>C , LRG_196t1:c.1782T>C	NP_982272.2:p.Ala594=
ENST00000382329.1:c.18T>C	ENSP00000371766.1:p.Ala6=
ENST00000382329.2:c.1578T>C	ENSP00000371766.2:p.Ala526=
ENST00000382331.5:c.-174T>C	ENSP00000371768.1:n.-174T>C
ENST00000382331.6:n.418T>C
ENST00000432829.6:c.1782T>C	ENSP00000394888.3:p.Ala594=
ENST00000453981.5:c.1578T>C	ENSP00000408464.2:p.Ala526=
ENST00000469391.5:c.1578T>C	ENSP00000419438.1:p.Ala526=
ENST00000483757.5:c.*1031T>C	ENSP00000417691.1:n.*1031T>C
ENST00000483757.6:c.*243T>C	ENSP00000417691.2:n.*243T>C
ENST00000495184.5:n.1643T>C
ENST00000685949.1:n.405T>C
XM_011518045.1:c.1578T>C	XP_011516347.1:p.Ala526=
XM_011518045.3:c.1578T>C	XP_011516347.1:p.Ala526=
XM_011518046.1:c.1644T>C	XP_011516348.1:p.Ala548=
XM_011518046.2:c.1644T>C	XP_011516348.1:p.Ala548=
XM_011518047.1:c.1578T>C	XP_011516349.1:p.Ala526=
XM_011518047.3:c.1578T>C	XP_011516349.1:p.Ala526=
XM_011518048.1:c.1578T>C	XP_011516350.1:p.Ala526=
XM_011518048.2:c.1578T>C	XP_011516350.1:p.Ala526=
XM_011518049.1:c.18T>C	XP_011516351.1:p.Ala6=
XM_011518049.2:c.18T>C	XP_011516351.1:p.Ala6=
XM_017015173.1:c.1578T>C	XP_016870662.1:p.Ala526=
XM_017015174.1:c.1644T>C	XP_016870663.1:p.Ala548=