Canonical Allele Identifier: CA9208529

Gene: DOCK6

Linked Data

• ClinVar Variation Id: 261356
• ClinVar RCV Id: RCV000242431 ; RCV000606790 ; RCV001522301
• dbSNP Id: rs8113582
• ExAC: 19:11363146 A / T
• gnomAD v2: 19-11363146-A-T
• gnomAD v3: 19-11252470-A-T
• gnomAD v4: 19-11252470-A-T
• MyVariant Identifiers: chr19:g.11363146A>T (hg19) ; chr19:g.11252470A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11252470A>T , CM000681.2:g.11252470A>T	GRCh38
NC_000019.9:g.11363146A>T , CM000681.1:g.11363146A>T	GRCh37
NC_000019.8:g.11224146A>T	NCBI36
NG_031953.1:g.15023T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.377+12T>A	ENSP00000468638.2:n.377+12T>A
ENST00000294618.12:c.377+12T>A MANE Select	ENSP00000294618.6:n.377+12T>A
ENST00000294618.11:c.377+12T>A	ENSP00000294618.6:n.377+12T>A
ENST00000585609.1:n.662T>A
ENST00000586482.1:n.286T>A
NM_020812.3:c.377+12T>A	NP_065863.2:n.377+12T>A
XM_005260000.2:c.377+12T>A	XP_005260057.1:n.377+12T>A
XM_005260001.2:c.377+12T>A	XP_005260058.1:n.377+12T>A
XM_011528150.1:c.377+12T>A	XP_011526452.1:n.377+12T>A
XM_011528151.1:c.377+12T>A	XP_011526453.1:n.377+12T>A
XM_011528152.1:c.377+12T>A	XP_011526454.1:n.377+12T>A
XM_011528153.1:c.377+12T>A	XP_011526455.1:n.377+12T>A
XR_936195.1:n.438+12T>A
XR_936196.1:n.438+12T>A
XR_936197.1:n.438+12T>A
XR_936198.1:n.438+12T>A
NM_001367830.1:c.377+12T>A	NP_001354759.1:n.377+12T>A
NM_020812.4:c.377+12T>A MANE Select	NP_065863.2:n.377+12T>A