Canonical Allele Identifier: CA4958564

Gene: DOCK8

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.399245C>A , CM000671.2:g.399245C>A	GRCh38
NC_000009.11:g.399245C>A , CM000671.1:g.399245C>A	GRCh37
NC_000009.10:g.389245C>A	NCBI36
NG_017007.1:g.189381C>A , LRG_196:g.189381C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2920C>A	ENSP00000371766.2:p.His974Asn
ENST00000382331.6:n.1717C>A
ENST00000682260.1:n.3116C>A
ENST00000685949.1:n.2008C>A
ENST00000432829.7:c.3220C>A MANE Select	ENSP00000394888.3:p.His1074Asn
ENST00000382329.1:c.1621C>A	ENSP00000371766.1:p.His541Asn
ENST00000382331.5:c.1126C>A	ENSP00000371768.1:p.His376Asn
ENST00000432829.6:c.3220C>A	ENSP00000394888.3:p.His1074Asn
ENST00000453981.5:c.3016C>A	ENSP00000408464.2:p.His1006Asn
ENST00000469391.5:c.2920C>A	ENSP00000419438.1:p.His974Asn
ENST00000495184.5:n.5175C>A
NM_001190458.1:c.2920C>A	NP_001177387.1:p.His974Asn
NM_001193536.1:c.3016C>A	NP_001180465.1:p.His1006Asn
NM_203447.3:c.3220C>A , LRG_196t1:c.3220C>A	NP_982272.2:p.His1074Asn
XM_011518045.1:c.2920C>A	XP_011516347.1:p.His974Asn
XM_011518046.1:c.3082C>A	XP_011516348.1:p.His1028Asn
XM_011518047.1:c.3016C>A	XP_011516349.1:p.His1006Asn
XM_011518048.1:c.3016C>A	XP_011516350.1:p.His1006Asn
XM_011518049.1:c.1456C>A	XP_011516351.1:p.His486Asn
XM_011518045.3:c.2920C>A	XP_011516347.1:p.His974Asn
XM_011518046.2:c.3082C>A	XP_011516348.1:p.His1028Asn
XM_011518047.3:c.3016C>A	XP_011516349.1:p.His1006Asn
XM_011518048.2:c.3016C>A	XP_011516350.1:p.His1006Asn
XM_011518049.2:c.1456C>A	XP_011516351.1:p.His486Asn
XM_017015173.1:c.3016C>A	XP_016870662.1:p.His1006Asn
XM_017015174.1:c.3082C>A	XP_016870663.1:p.His1028Asn
NM_001190458.2:c.2920C>A	NP_001177387.1:p.His974Asn
NM_001193536.2:c.3016C>A	NP_001180465.1:p.His1006Asn
NM_203447.4:c.3220C>A MANE Select	NP_982272.2:p.His1074Asn