Canonical Allele Identifier: CA372768069

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.441349C>T , CM000671.2:g.441349C>T	GRCh38
NC_000009.11:g.441349C>T , CM000671.1:g.441349C>T	GRCh37
NC_000009.10:g.431349C>T	NCBI36
NG_017007.1:g.231485C>T , LRG_196:g.231485C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.5287C>T MANE Select	NP_982272.2:p.Arg1763Ter
ENST00000432829.7:c.5287C>T MANE Select	ENSP00000394888.3:p.Arg1763Ter
NM_001190458.1:c.4987C>T	NP_001177387.1:p.Arg1663Ter
NM_001190458.2:c.4987C>T	NP_001177387.1:p.Arg1663Ter
NM_001193536.1:c.5083C>T	NP_001180465.1:p.Arg1695Ter
NM_001193536.2:c.5083C>T	NP_001180465.1:p.Arg1695Ter
NM_203447.3:c.5287C>T , LRG_196t1:c.5287C>T	NP_982272.2:p.Arg1763Ter
ENST00000382329.1:c.3688C>T	ENSP00000371766.1:p.Arg1230Ter
ENST00000382329.2:c.4987C>T	ENSP00000371766.2:p.Arg1663Ter
ENST00000432829.6:c.5287C>T	ENSP00000394888.3:p.Arg1763Ter
ENST00000453981.5:c.5083C>T	ENSP00000408464.2:p.Arg1695Ter
ENST00000469391.5:c.4987C>T	ENSP00000419438.1:p.Arg1663Ter
ENST00000495184.5:n.7242C>T
ENST00000683406.1:n.1762C>T
ENST00000684637.1:n.968C>T
ENST00000685949.1:n.4075C>T
XM_011518045.1:c.4987C>T	XP_011516347.1:p.Arg1663Ter
XM_011518045.3:c.4987C>T	XP_011516347.1:p.Arg1663Ter
XM_011518046.1:c.5149C>T	XP_011516348.1:p.Arg1717Ter
XM_011518046.2:c.5149C>T	XP_011516348.1:p.Arg1717Ter
XM_011518047.1:c.5083C>T	XP_011516349.1:p.Arg1695Ter
XM_011518047.3:c.5083C>T	XP_011516349.1:p.Arg1695Ter
XM_011518048.1:c.5083C>T	XP_011516350.1:p.Arg1695Ter
XM_011518048.2:c.5083C>T	XP_011516350.1:p.Arg1695Ter
XM_011518049.1:c.3523C>T	XP_011516351.1:p.Arg1175Ter
XM_011518049.2:c.3523C>T	XP_011516351.1:p.Arg1175Ter
XM_017015173.1:c.5083C>T	XP_016870662.1:p.Arg1695Ter
XM_017015174.1:c.5149C>T	XP_016870663.1:p.Arg1717Ter