Canonical Allele Identifier: CA463691084

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.414893T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414893T>G , CM000671.2:g.414893T>G	GRCh38
NC_000009.11:g.414893T>G , CM000671.1:g.414893T>G	GRCh37
NC_000009.10:g.404893T>G	NCBI36
NG_017007.1:g.205029T>G , LRG_196:g.205029T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3342T>G	ENSP00000371766.2:p.Leu1114=
ENST00000683406.1:n.163T>G
ENST00000685949.1:n.2430T>G
ENST00000432829.7:c.3642T>G MANE Select	ENSP00000394888.3:p.Leu1214=
ENST00000382329.1:c.2043T>G	ENSP00000371766.1:p.Leu681=
ENST00000432829.6:c.3642T>G	ENSP00000394888.3:p.Leu1214=
ENST00000453981.5:c.3438T>G	ENSP00000408464.2:p.Leu1146=
ENST00000469391.5:c.3342T>G	ENSP00000419438.1:p.Leu1114=
ENST00000495184.5:n.5597T>G
NM_001190458.1:c.3342T>G	NP_001177387.1:p.Leu1114=
NM_001193536.1:c.3438T>G	NP_001180465.1:p.Leu1146=
NM_203447.3:c.3642T>G , LRG_196t1:c.3642T>G	NP_982272.2:p.Leu1214=
XM_011518045.1:c.3342T>G	XP_011516347.1:p.Leu1114=
XM_011518046.1:c.3504T>G	XP_011516348.1:p.Leu1168=
XM_011518047.1:c.3438T>G	XP_011516349.1:p.Leu1146=
XM_011518048.1:c.3438T>G	XP_011516350.1:p.Leu1146=
XM_011518049.1:c.1878T>G	XP_011516351.1:p.Leu626=
XM_011518045.3:c.3342T>G	XP_011516347.1:p.Leu1114=
XM_011518046.2:c.3504T>G	XP_011516348.1:p.Leu1168=
XM_011518047.3:c.3438T>G	XP_011516349.1:p.Leu1146=
XM_011518048.2:c.3438T>G	XP_011516350.1:p.Leu1146=
XM_011518049.2:c.1878T>G	XP_011516351.1:p.Leu626=
XM_017015173.1:c.3438T>G	XP_016870662.1:p.Leu1146=
XM_017015174.1:c.3504T>G	XP_016870663.1:p.Leu1168=
NM_001190458.2:c.3342T>G	NP_001177387.1:p.Leu1114=
NM_001193536.2:c.3438T>G	NP_001180465.1:p.Leu1146=
NM_203447.4:c.3642T>G MANE Select	NP_982272.2:p.Leu1214=