Canonical Allele Identifier: CA372761011

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.312168T>C , CM000671.2:g.312168T>C	GRCh38
NC_000009.11:g.312168T>C , CM000671.1:g.312168T>C	GRCh37
NC_000009.10:g.302168T>C	NCBI36
NG_017007.1:g.102304T>C , LRG_196:g.102304T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.741+2T>C MANE Select	NP_982272.2:n.741+2T>C
ENST00000432829.7:c.741+2T>C MANE Select	ENSP00000394888.3:n.741+2T>C
NM_001190458.1:c.537+2T>C	NP_001177387.1:n.537+2T>C
NM_001190458.2:c.537+2T>C	NP_001177387.1:n.537+2T>C
NM_001193536.1:c.537+2T>C	NP_001180465.1:n.537+2T>C
NM_001193536.2:c.537+2T>C	NP_001180465.1:n.537+2T>C
NM_203447.3:c.741+2T>C , LRG_196t1:c.741+2T>C	NP_982272.2:n.741+2T>C
ENST00000382329.2:c.537+2T>C	ENSP00000371766.2:n.537+2T>C
ENST00000382341.5:n.636+2T>C
ENST00000432829.6:c.741+2T>C	ENSP00000394888.3:n.741+2T>C
ENST00000453981.5:c.537+2T>C	ENSP00000408464.2:n.537+2T>C
ENST00000454469.6:n.850+2T>C
ENST00000469391.5:c.537+2T>C	ENSP00000419438.1:n.537+2T>C
ENST00000474772.1:n.209+2T>C
ENST00000474772.2:n.187+2T>C
ENST00000478380.5:n.622T>C
ENST00000483757.5:c.537+2T>C	ENSP00000417691.1:n.537+2T>C
ENST00000483757.6:c.537+2T>C	ENSP00000417691.2:n.537+2T>C
ENST00000495184.5:n.602+2T>C
ENST00000524396.5:c.*704+2T>C	ENSP00000436628.1:n.*704+2T>C
ENST00000682249.1:c.537+2T>C	ENSP00000507731.1:n.537+2T>C
ENST00000684384.1:n.852T>C
XM_011518045.1:c.537+2T>C	XP_011516347.1:n.537+2T>C
XM_011518045.3:c.537+2T>C	XP_011516347.1:n.537+2T>C
XM_011518046.1:c.603+2T>C	XP_011516348.1:n.603+2T>C
XM_011518046.2:c.603+2T>C	XP_011516348.1:n.603+2T>C
XM_011518047.1:c.537+2T>C	XP_011516349.1:n.537+2T>C
XM_011518047.3:c.537+2T>C	XP_011516349.1:n.537+2T>C
XM_011518048.1:c.537+2T>C	XP_011516350.1:n.537+2T>C
XM_011518048.2:c.537+2T>C	XP_011516350.1:n.537+2T>C
XM_017015173.1:c.537+2T>C	XP_016870662.1:n.537+2T>C
XM_017015174.1:c.603+2T>C	XP_016870663.1:n.603+2T>C