Canonical Allele Identifier: CA372769840

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.452107T>A (hg19) ; chr9:g.452107T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452107T>A , CM000671.2:g.452107T>A	GRCh38
NC_000009.11:g.452107T>A , CM000671.1:g.452107T>A	GRCh37
NC_000009.10:g.442107T>A	NCBI36
NG_017007.1:g.242243T>A , LRG_196:g.242243T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5758T>A	ENSP00000371766.2:p.Phe1920Ile
ENST00000683406.1:n.2533T>A
ENST00000684637.1:n.1739T>A
ENST00000685949.1:n.4846T>A
ENST00000432829.7:c.6058T>A MANE Select	ENSP00000394888.3:p.Phe2020Ile
ENST00000382329.1:c.4459T>A	ENSP00000371766.1:p.Phe1487Ile
ENST00000432829.6:c.6058T>A	ENSP00000394888.3:p.Phe2020Ile
ENST00000453981.5:c.5854T>A	ENSP00000408464.2:p.Phe1952Ile
ENST00000469391.5:c.5758T>A	ENSP00000419438.1:p.Phe1920Ile
ENST00000495184.5:n.8013T>A
NM_001190458.1:c.5758T>A	NP_001177387.1:p.Phe1920Ile
NM_001193536.1:c.5854T>A	NP_001180465.1:p.Phe1952Ile
NM_203447.3:c.6058T>A , LRG_196t1:c.6058T>A	NP_982272.2:p.Phe2020Ile
XM_011518045.1:c.5758T>A	XP_011516347.1:p.Phe1920Ile
XM_011518046.1:c.5920T>A	XP_011516348.1:p.Phe1974Ile
XM_011518047.1:c.5854T>A	XP_011516349.1:p.Phe1952Ile
XM_011518048.1:c.5854T>A	XP_011516350.1:p.Phe1952Ile
XM_011518049.1:c.4294T>A	XP_011516351.1:p.Phe1432Ile
XM_011518045.3:c.5758T>A	XP_011516347.1:p.Phe1920Ile
XM_011518046.2:c.5920T>A	XP_011516348.1:p.Phe1974Ile
XM_011518047.3:c.5854T>A	XP_011516349.1:p.Phe1952Ile
XM_011518048.2:c.5854T>A	XP_011516350.1:p.Phe1952Ile
XM_011518049.2:c.4294T>A	XP_011516351.1:p.Phe1432Ile
XM_017015173.1:c.5854T>A	XP_016870662.1:p.Phe1952Ile
XM_017015174.1:c.5920T>A	XP_016870663.1:p.Phe1974Ile
NM_001190458.2:c.5758T>A	NP_001177387.1:p.Phe1920Ile
NM_001193536.2:c.5854T>A	NP_001180465.1:p.Phe1952Ile
NM_203447.4:c.6058T>A MANE Select	NP_982272.2:p.Phe2020Ile