Canonical Allele Identifier: CA404069697

Gene: DOCK6

Linked Data

• ClinVar Variation Id: 2541083
• ClinVar RCV Id: RCV003271981
• gnomAD v4: 19-11200717-T-C
• MyVariant Identifiers: chr19:g.11311393T>C (hg19) ; chr19:g.11200717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11200717T>C , CM000681.2:g.11200717T>C	GRCh38
NC_000019.9:g.11311393T>C , CM000681.1:g.11311393T>C	GRCh37
NC_000019.8:g.11172393T>C	NCBI36
NG_031953.1:g.66776A>G
NG_051186.1:g.1851A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.6043A>G	ENSP00000468638.2:p.Lys2015Glu
ENST00000294618.12:c.5938A>G MANE Select	ENSP00000294618.6:p.Lys1980Glu
ENST00000294618.11:c.5938A>G	ENSP00000294618.6:p.Lys1980Glu
ENST00000586702.1:n.841A>G
ENST00000587656.5:c.3803A>G
ENST00000587734.1:c.75+1172A>G	ENSP00000468291.1:n.75+1172A>G
NM_020812.3:c.5938A>G	NP_065863.2:p.Lys1980Glu
XM_005260000.2:c.6136A>G	XP_005260057.1:p.Lys2046Glu
XM_005260001.2:c.6043A>G	XP_005260058.1:p.Lys2015Glu
XM_006722804.2:c.3274A>G	XP_006722867.1:p.Lys1092Glu
XM_011528150.1:c.6076A>G	XP_011526452.1:p.Lys2026Glu
XM_011528151.1:c.6064A>G	XP_011526453.1:p.Lys2022Glu
XM_011528152.1:c.5971A>G	XP_011526454.1:p.Lys1991Glu
XR_936195.1:n.6183A>G
XM_006722804.3:c.3274A>G	XP_006722867.1:p.Lys1092Glu
NM_001367830.1:c.6043A>G	NP_001354759.1:p.Lys2015Glu
NM_020812.4:c.5938A>G MANE Select	NP_065863.2:p.Lys1980Glu