Canonical Allele Identifier: CA4958415

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.390533C>G , CM000671.2:g.390533C>G	GRCh38
NC_000009.11:g.390533C>G , CM000671.1:g.390533C>G	GRCh37
NC_000009.10:g.380533C>G	NCBI36
NG_017007.1:g.180669C>G , LRG_196:g.180669C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.2937C>G MANE Select	NP_982272.2:p.Val979=
ENST00000432829.7:c.2937C>G MANE Select	ENSP00000394888.3:p.Val979=
NM_001190458.1:c.2637C>G	NP_001177387.1:p.Val879=
NM_001190458.2:c.2637C>G	NP_001177387.1:p.Val879=
NM_001193536.1:c.2733C>G	NP_001180465.1:p.Val911=
NM_001193536.2:c.2733C>G	NP_001180465.1:p.Val911=
NM_203447.3:c.2937C>G , LRG_196t1:c.2937C>G	NP_982272.2:p.Val979=
ENST00000382329.1:c.1338C>G	ENSP00000371766.1:p.Val446=
ENST00000382329.2:c.2637C>G	ENSP00000371766.2:p.Val879=
ENST00000382331.5:c.843C>G	ENSP00000371768.1:p.Val281=
ENST00000382331.6:n.1434C>G
ENST00000432829.6:c.2937C>G	ENSP00000394888.3:p.Val979=
ENST00000453981.5:c.2733C>G	ENSP00000408464.2:p.Val911=
ENST00000469391.5:c.2637C>G	ENSP00000419438.1:p.Val879=
ENST00000495184.5:n.4892C>G
ENST00000682260.1:n.2833C>G
ENST00000685949.1:n.1725C>G
XM_011518045.1:c.2637C>G	XP_011516347.1:p.Val879=
XM_011518045.3:c.2637C>G	XP_011516347.1:p.Val879=
XM_011518046.1:c.2799C>G	XP_011516348.1:p.Val933=
XM_011518046.2:c.2799C>G	XP_011516348.1:p.Val933=
XM_011518047.1:c.2733C>G	XP_011516349.1:p.Val911=
XM_011518047.3:c.2733C>G	XP_011516349.1:p.Val911=
XM_011518048.1:c.2733C>G	XP_011516350.1:p.Val911=
XM_011518048.2:c.2733C>G	XP_011516350.1:p.Val911=
XM_011518049.1:c.1173C>G	XP_011516351.1:p.Val391=
XM_011518049.2:c.1173C>G	XP_011516351.1:p.Val391=
XM_017015173.1:c.2733C>G	XP_016870662.1:p.Val911=
XM_017015174.1:c.2799C>G	XP_016870663.1:p.Val933=