Canonical Allele Identifier: CA4958637

Gene: DOCK8

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.404995G>C , CM000671.2:g.404995G>C	GRCh38
NC_000009.11:g.404995G>C , CM000671.1:g.404995G>C	GRCh37
NC_000009.10:g.394995G>C	NCBI36
NG_017007.1:g.195131G>C , LRG_196:g.195131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3012G>C	ENSP00000371766.2:p.Glu1004Asp
ENST00000382331.6:n.1809G>C
ENST00000685949.1:n.2100G>C
ENST00000432829.7:c.3312G>C MANE Select	ENSP00000394888.3:p.Glu1104Asp
ENST00000382329.1:c.1713G>C	ENSP00000371766.1:p.Glu571Asp
ENST00000382331.5:c.1218G>C	ENSP00000371768.1:p.Glu406Asp
ENST00000432829.6:c.3312G>C	ENSP00000394888.3:p.Glu1104Asp
ENST00000453981.5:c.3108G>C	ENSP00000408464.2:p.Glu1036Asp
ENST00000469391.5:c.3012G>C	ENSP00000419438.1:p.Glu1004Asp
ENST00000495184.5:n.5267G>C
NM_001190458.1:c.3012G>C	NP_001177387.1:p.Glu1004Asp
NM_001193536.1:c.3108G>C	NP_001180465.1:p.Glu1036Asp
NM_203447.3:c.3312G>C , LRG_196t1:c.3312G>C	NP_982272.2:p.Glu1104Asp
XM_011518045.1:c.3012G>C	XP_011516347.1:p.Glu1004Asp
XM_011518046.1:c.3174G>C	XP_011516348.1:p.Glu1058Asp
XM_011518047.1:c.3108G>C	XP_011516349.1:p.Glu1036Asp
XM_011518048.1:c.3108G>C	XP_011516350.1:p.Glu1036Asp
XM_011518049.1:c.1548G>C	XP_011516351.1:p.Glu516Asp
XM_011518045.3:c.3012G>C	XP_011516347.1:p.Glu1004Asp
XM_011518046.2:c.3174G>C	XP_011516348.1:p.Glu1058Asp
XM_011518047.3:c.3108G>C	XP_011516349.1:p.Glu1036Asp
XM_011518048.2:c.3108G>C	XP_011516350.1:p.Glu1036Asp
XM_011518049.2:c.1548G>C	XP_011516351.1:p.Glu516Asp
XM_017015173.1:c.3108G>C	XP_016870662.1:p.Glu1036Asp
XM_017015174.1:c.3174G>C	XP_016870663.1:p.Glu1058Asp
NM_001190458.2:c.3012G>C	NP_001177387.1:p.Glu1004Asp
NM_001193536.2:c.3108G>C	NP_001180465.1:p.Glu1036Asp
NM_203447.4:c.3312G>C MANE Select	NP_982272.2:p.Glu1104Asp