Canonical Allele Identifier: CA2582496572

Gene: DOCK6

Linked Data

• gnomAD v4: 19-11232190-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11232190T>G , CM000681.2:g.11232190T>G	GRCh38
NC_000019.9:g.11342866T>G , CM000681.1:g.11342866T>G	GRCh37
NC_000019.8:g.11203866T>G	NCBI36
NG_031953.1:g.35303A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.2818A>C	ENSP00000468638.2:p.Arg940=
ENST00000294618.12:c.2718+1013A>C MANE Select	ENSP00000294618.6:n.2718+1013A>C
ENST00000294618.11:c.2718+1013A>C	ENSP00000294618.6:n.2718+1013A>C
ENST00000585904.1:c.421A>C	ENSP00000465767.1:p.Arg141=
ENST00000587656.5:c.578A>C
ENST00000590680.5:c.1061+1013A>C
NM_020812.3:c.2718+1013A>C	NP_065863.2:n.2718+1013A>C
XM_005260000.2:c.2818A>C	XP_005260057.1:p.Arg940=
XM_005260001.2:c.2818A>C	XP_005260058.1:p.Arg940=
XM_006722804.2:c.54+849A>C	XP_006722867.1:n.54+849A>C
XM_011528150.1:c.2851A>C	XP_011526452.1:p.Arg951=
XM_011528151.1:c.2751+1013A>C	XP_011526453.1:n.2751+1013A>C
XM_011528152.1:c.2751+1013A>C	XP_011526454.1:n.2751+1013A>C
XM_011528153.1:c.2851A>C	XP_011526455.1:p.Arg951=
XR_936195.1:n.2912A>C
XR_936196.1:n.2812+1013A>C
XR_936197.1:n.2912A>C
XR_936198.1:n.2812+1013A>C
XM_006722804.3:c.54+849A>C	XP_006722867.1:n.54+849A>C
NM_001367830.1:c.2818A>C	NP_001354759.1:p.Arg940=
NM_020812.4:c.2718+1013A>C MANE Select	NP_065863.2:n.2718+1013A>C