Canonical Allele Identifier: CA4957199

Gene: DOCK8

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.289555C>G , CM000671.2:g.289555C>G	GRCh38
NC_000009.11:g.289555C>G , CM000671.1:g.289555C>G	GRCh37
NC_000009.10:g.279555C>G	NCBI36
NG_017007.1:g.79691C>G , LRG_196:g.79691C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.174C>G	ENSP00000371766.2:p.Ile58Met
ENST00000483757.6:c.174C>G	ENSP00000417691.2:p.Ile58Met
ENST00000682121.1:n.387C>G
ENST00000682249.1:c.174C>G	ENSP00000507731.1:p.Ile58Met
ENST00000684166.1:n.487C>G
ENST00000684384.1:n.487C>G
ENST00000432829.7:c.378C>G MANE Select	ENSP00000394888.3:p.Ile126Met
ENST00000382341.5:n.273C>G
ENST00000432829.6:c.378C>G	ENSP00000394888.3:p.Ile126Met
ENST00000453981.5:c.174C>G	ENSP00000408464.2:p.Ile58Met
ENST00000454469.6:n.487C>G
ENST00000469391.5:c.174C>G	ENSP00000419438.1:p.Ile58Met
ENST00000478380.5:n.257C>G
ENST00000479404.5:c.174C>G	ENSP00000417082.1:p.Ile58Met
ENST00000483757.5:c.174C>G	ENSP00000417691.1:p.Ile58Met
ENST00000487230.5:c.174C>G	ENSP00000418318.1:p.Ile58Met
ENST00000495184.5:n.239C>G
ENST00000524396.5:c.*341C>G	ENSP00000436628.1:n.*341C>G
NM_001190458.1:c.174C>G	NP_001177387.1:p.Ile58Met
NM_001193536.1:c.174C>G	NP_001180465.1:p.Ile58Met
NM_203447.3:c.378C>G , LRG_196t1:c.378C>G	NP_982272.2:p.Ile126Met
XM_011518045.1:c.174C>G	XP_011516347.1:p.Ile58Met
XM_011518046.1:c.240C>G	XP_011516348.1:p.Ile80Met
XM_011518047.1:c.174C>G	XP_011516349.1:p.Ile58Met
XM_011518048.1:c.174C>G	XP_011516350.1:p.Ile58Met
XM_011518045.3:c.174C>G	XP_011516347.1:p.Ile58Met
XM_011518046.2:c.240C>G	XP_011516348.1:p.Ile80Met
XM_011518047.3:c.174C>G	XP_011516349.1:p.Ile58Met
XM_011518048.2:c.174C>G	XP_011516350.1:p.Ile58Met
XM_017015173.1:c.174C>G	XP_016870662.1:p.Ile58Met
XM_017015174.1:c.240C>G	XP_016870663.1:p.Ile80Met
NM_001190458.2:c.174C>G	NP_001177387.1:p.Ile58Met
NM_001193536.2:c.174C>G	NP_001180465.1:p.Ile58Met
NM_203447.4:c.378C>G MANE Select	NP_982272.2:p.Ile126Met