Canonical Allele Identifier: CA9206295

Gene: DOCK6

Linked Data

• ClinVar Variation Id: 253047
• ClinVar RCV Id: RCV000239583 ; RCV001242778 ; RCV002518540
• dbSNP Id: rs201387914
• ExAC: 19:11311390 A / G
• gnomAD v2: 19-11311390-A-G
• gnomAD v3: 19-11200714-A-G
• gnomAD v4: 19-11200714-A-G
• MyVariant Identifiers: chr19:g.11311390A>G (hg19) ; chr19:g.11200714A>G (hg38)
• PubMed: PMID:26457590

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11200714A>G , CM000681.2:g.11200714A>G	GRCh38
NC_000019.9:g.11311390A>G , CM000681.1:g.11311390A>G	GRCh37
NC_000019.8:g.11172390A>G	NCBI36
NG_031953.1:g.66779T>C
NG_051186.1:g.1854T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.6044+2T>C	ENSP00000468638.2:n.6044+2T>C
ENST00000294618.12:c.5939+2T>C MANE Select	ENSP00000294618.6:n.5939+2T>C
ENST00000294618.11:c.5939+2T>C	ENSP00000294618.6:n.5939+2T>C
ENST00000586702.1:n.842+2T>C
ENST00000587656.5:c.3804+2T>C
ENST00000587734.1:c.76-1175T>C	ENSP00000468291.1:n.76-1175T>C
NM_020812.3:c.5939+2T>C	NP_065863.2:n.5939+2T>C
XM_005260000.2:c.6137+2T>C	XP_005260057.1:n.6137+2T>C
XM_005260001.2:c.6044+2T>C	XP_005260058.1:n.6044+2T>C
XM_006722804.2:c.3275+2T>C	XP_006722867.1:n.3275+2T>C
XM_011528150.1:c.6077+2T>C	XP_011526452.1:n.6077+2T>C
XM_011528151.1:c.6065+2T>C	XP_011526453.1:n.6065+2T>C
XM_011528152.1:c.5972+2T>C	XP_011526454.1:n.5972+2T>C
XR_936195.1:n.6184+2T>C
XM_006722804.3:c.3275+2T>C	XP_006722867.1:n.3275+2T>C
NM_001367830.1:c.6044+2T>C	NP_001354759.1:n.6044+2T>C
NM_020812.4:c.5939+2T>C MANE Select	NP_065863.2:n.5939+2T>C