Canonical Allele Identifier: CA463701275

Gene: DOCK8

Linked Data

• dbSNP Id: rs2057483811
• gnomAD v4: 9-452064-A-G
• MyVariant Identifiers: chr9:g.452064A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452064A>G , CM000671.2:g.452064A>G	GRCh38
NC_000009.11:g.452064A>G , CM000671.1:g.452064A>G	GRCh37
NC_000009.10:g.442064A>G	NCBI36
NG_017007.1:g.242200A>G , LRG_196:g.242200A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5715A>G	ENSP00000371766.2:p.Lys1905=
ENST00000683406.1:n.2490A>G
ENST00000684637.1:n.1696A>G
ENST00000685949.1:n.4803A>G
ENST00000432829.7:c.6015A>G MANE Select	ENSP00000394888.3:p.Lys2005=
ENST00000382329.1:c.4416A>G	ENSP00000371766.1:p.Lys1472=
ENST00000432829.6:c.6015A>G	ENSP00000394888.3:p.Lys2005=
ENST00000453981.5:c.5811A>G	ENSP00000408464.2:p.Lys1937=
ENST00000469391.5:c.5715A>G	ENSP00000419438.1:p.Lys1905=
ENST00000495184.5:n.7970A>G
NM_001190458.1:c.5715A>G	NP_001177387.1:p.Lys1905=
NM_001193536.1:c.5811A>G	NP_001180465.1:p.Lys1937=
NM_203447.3:c.6015A>G , LRG_196t1:c.6015A>G	NP_982272.2:p.Lys2005=
XM_011518045.1:c.5715A>G	XP_011516347.1:p.Lys1905=
XM_011518046.1:c.5877A>G	XP_011516348.1:p.Lys1959=
XM_011518047.1:c.5811A>G	XP_011516349.1:p.Lys1937=
XM_011518048.1:c.5811A>G	XP_011516350.1:p.Lys1937=
XM_011518049.1:c.4251A>G	XP_011516351.1:p.Lys1417=
XM_011518045.3:c.5715A>G	XP_011516347.1:p.Lys1905=
XM_011518046.2:c.5877A>G	XP_011516348.1:p.Lys1959=
XM_011518047.3:c.5811A>G	XP_011516349.1:p.Lys1937=
XM_011518048.2:c.5811A>G	XP_011516350.1:p.Lys1937=
XM_011518049.2:c.4251A>G	XP_011516351.1:p.Lys1417=
XM_017015173.1:c.5811A>G	XP_016870662.1:p.Lys1937=
XM_017015174.1:c.5877A>G	XP_016870663.1:p.Lys1959=
NM_001190458.2:c.5715A>G	NP_001177387.1:p.Lys1905=
NM_001193536.2:c.5811A>G	NP_001180465.1:p.Lys1937=
NM_203447.4:c.6015A>G MANE Select	NP_982272.2:p.Lys2005=