Canonical Allele Identifier: CA372763276

Gene: DOCK8

Linked Data

• dbSNP Id: rs1335049651
• gnomAD v2: 9-377098-G-A
• gnomAD v4: 9-377098-G-A
• MyVariant Identifiers: chr9:g.377098G>A (hg19) ; chr9:g.377098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377098G>A , CM000671.2:g.377098G>A	GRCh38
NC_000009.11:g.377098G>A , CM000671.1:g.377098G>A	GRCh37
NC_000009.10:g.367098G>A	NCBI36
NG_017007.1:g.167234G>A , LRG_196:g.167234G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2123G>A	ENSP00000371766.2:p.Ser708Asn
ENST00000382331.6:n.824G>A
ENST00000483757.6:c.*1014G>A	ENSP00000417691.2:n.*1014G>A
ENST00000682260.1:n.2223G>A
ENST00000685949.1:n.1115G>A
ENST00000432829.7:c.2327G>A MANE Select	ENSP00000394888.3:p.Ser776Asn
ENST00000382329.1:c.728G>A	ENSP00000371766.1:p.Ser243Asn
ENST00000382331.5:c.233G>A	ENSP00000371768.1:p.Ser78Asn
ENST00000432829.6:c.2327G>A	ENSP00000394888.3:p.Ser776Asn
ENST00000453981.5:c.2123G>A	ENSP00000408464.2:p.Ser708Asn
ENST00000469391.5:c.2123G>A	ENSP00000419438.1:p.Ser708Asn
ENST00000483757.5:c.*1802G>A	ENSP00000417691.1:n.*1802G>A
ENST00000495184.5:n.4282G>A
NM_001190458.1:c.2123G>A	NP_001177387.1:p.Ser708Asn
NM_001193536.1:c.2123G>A	NP_001180465.1:p.Ser708Asn
NM_203447.3:c.2327G>A , LRG_196t1:c.2327G>A	NP_982272.2:p.Ser776Asn
XM_011518045.1:c.2123G>A	XP_011516347.1:p.Ser708Asn
XM_011518046.1:c.2189G>A	XP_011516348.1:p.Ser730Asn
XM_011518047.1:c.2123G>A	XP_011516349.1:p.Ser708Asn
XM_011518048.1:c.2123G>A	XP_011516350.1:p.Ser708Asn
XM_011518049.1:c.563G>A	XP_011516351.1:p.Ser188Asn
XM_011518045.3:c.2123G>A	XP_011516347.1:p.Ser708Asn
XM_011518046.2:c.2189G>A	XP_011516348.1:p.Ser730Asn
XM_011518047.3:c.2123G>A	XP_011516349.1:p.Ser708Asn
XM_011518048.2:c.2123G>A	XP_011516350.1:p.Ser708Asn
XM_011518049.2:c.563G>A	XP_011516351.1:p.Ser188Asn
XM_017015173.1:c.2123G>A	XP_016870662.1:p.Ser708Asn
XM_017015174.1:c.2189G>A	XP_016870663.1:p.Ser730Asn
NM_001190458.2:c.2123G>A	NP_001177387.1:p.Ser708Asn
NM_001193536.2:c.2123G>A	NP_001180465.1:p.Ser708Asn
NM_203447.4:c.2327G>A MANE Select	NP_982272.2:p.Ser776Asn