Canonical Allele Identifier: CA4957552

Gene: DOCK8

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.328113C>T , CM000671.2:g.328113C>T	GRCh38
NC_000009.11:g.328113C>T , CM000671.1:g.328113C>T	GRCh37
NC_000009.10:g.318113C>T	NCBI36
NG_017007.1:g.118249C>T , LRG_196:g.118249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.782C>T	ENSP00000371766.2:p.Ala261Val
ENST00000483757.6:c.782C>T	ENSP00000417691.2:p.Ala261Val
ENST00000432829.7:c.986C>T MANE Select	ENSP00000394888.3:p.Ala329Val
ENST00000382341.5:n.881C>T
ENST00000432829.6:c.986C>T	ENSP00000394888.3:p.Ala329Val
ENST00000453981.5:c.782C>T	ENSP00000408464.2:p.Ala261Val
ENST00000454469.6:n.1095C>T
ENST00000469391.5:c.782C>T	ENSP00000419438.1:p.Ala261Val
ENST00000483757.5:c.782C>T	ENSP00000417691.1:p.Ala261Val
ENST00000495184.5:n.847C>T
ENST00000524396.5:c.*949C>T	ENSP00000436628.1:n.*949C>T
NM_001190458.1:c.782C>T	NP_001177387.1:p.Ala261Val
NM_001193536.1:c.782C>T	NP_001180465.1:p.Ala261Val
NM_203447.3:c.986C>T , LRG_196t1:c.986C>T	NP_982272.2:p.Ala329Val
XM_011518045.1:c.782C>T	XP_011516347.1:p.Ala261Val
XM_011518046.1:c.848C>T	XP_011516348.1:p.Ala283Val
XM_011518047.1:c.782C>T	XP_011516349.1:p.Ala261Val
XM_011518048.1:c.782C>T	XP_011516350.1:p.Ala261Val
XM_011518045.3:c.782C>T	XP_011516347.1:p.Ala261Val
XM_011518046.2:c.848C>T	XP_011516348.1:p.Ala283Val
XM_011518047.3:c.782C>T	XP_011516349.1:p.Ala261Val
XM_011518048.2:c.782C>T	XP_011516350.1:p.Ala261Val
XM_017015173.1:c.782C>T	XP_016870662.1:p.Ala261Val
XM_017015174.1:c.848C>T	XP_016870663.1:p.Ala283Val
NM_001190458.2:c.782C>T	NP_001177387.1:p.Ala261Val
NM_001193536.2:c.782C>T	NP_001180465.1:p.Ala261Val
NM_203447.4:c.986C>T MANE Select	NP_982272.2:p.Ala329Val