Canonical Allele Identifier: CA372759714

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.368136G>C , CM000671.2:g.368136G>C	GRCh38
NC_000009.11:g.368136G>C , CM000671.1:g.368136G>C	GRCh37
NC_000009.10:g.358136G>C	NCBI36
NG_017007.1:g.158272G>C , LRG_196:g.158272G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.1797+1G>C MANE Select	NP_982272.2:n.1797+1G>C
ENST00000432829.7:c.1797+1G>C MANE Select	ENSP00000394888.3:n.1797+1G>C
NM_001190458.1:c.1593+1G>C	NP_001177387.1:n.1593+1G>C
NM_001190458.2:c.1593+1G>C	NP_001177387.1:n.1593+1G>C
NM_001193536.1:c.1593+1G>C	NP_001180465.1:n.1593+1G>C
NM_001193536.2:c.1593+1G>C	NP_001180465.1:n.1593+1G>C
NM_203447.3:c.1797+1G>C , LRG_196t1:c.1797+1G>C	NP_982272.2:n.1797+1G>C
ENST00000382329.1:c.34G>C	ENSP00000371766.1:p.Val12Leu
ENST00000382329.2:c.1593+1G>C	ENSP00000371766.2:n.1593+1G>C
ENST00000382331.5:c.-159+1G>C	ENSP00000371768.1:n.-159+1G>C
ENST00000382331.6:n.433+1G>C
ENST00000432829.6:c.1797+1G>C	ENSP00000394888.3:n.1797+1G>C
ENST00000453981.5:c.1593+1G>C	ENSP00000408464.2:n.1593+1G>C
ENST00000469391.5:c.1593+1G>C	ENSP00000419438.1:n.1593+1G>C
ENST00000483757.5:c.*1046+1G>C	ENSP00000417691.1:n.*1046+1G>C
ENST00000483757.6:c.*258+1G>C	ENSP00000417691.2:n.*258+1G>C
ENST00000495184.5:n.1659G>C
ENST00000685949.1:n.421G>C
XM_011518045.1:c.1593+1G>C	XP_011516347.1:n.1593+1G>C
XM_011518045.3:c.1593+1G>C	XP_011516347.1:n.1593+1G>C
XM_011518046.1:c.1659+1G>C	XP_011516348.1:n.1659+1G>C
XM_011518046.2:c.1659+1G>C	XP_011516348.1:n.1659+1G>C
XM_011518047.1:c.1593+1G>C	XP_011516349.1:n.1593+1G>C
XM_011518047.3:c.1593+1G>C	XP_011516349.1:n.1593+1G>C
XM_011518048.1:c.1593+1G>C	XP_011516350.1:n.1593+1G>C
XM_011518048.2:c.1593+1G>C	XP_011516350.1:n.1593+1G>C
XM_011518049.1:c.33+1G>C	XP_011516351.1:n.33+1G>C
XM_011518049.2:c.33+1G>C	XP_011516351.1:n.33+1G>C
XM_017015173.1:c.1593+1G>C	XP_016870662.1:n.1593+1G>C
XM_017015174.1:c.1659+1G>C	XP_016870663.1:n.1659+1G>C