Canonical Allele Identifier: CA305328029

Gene: DOCK6

Linked Data

• dbSNP Id: rs1039543706
• gnomAD v2: 19-11342898-C-T
• gnomAD v3: 19-11232222-C-T
• gnomAD v4: 19-11232222-C-T
• MyVariant Identifiers: chr19:g.11342898C>T (hg19) ; chr19:g.11232222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11232222C>T , CM000681.2:g.11232222C>T	GRCh38
NC_000019.9:g.11342898C>T , CM000681.1:g.11342898C>T	GRCh37
NC_000019.8:g.11203898C>T	NCBI36
NG_031953.1:g.35271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.2786G>A	ENSP00000468638.2:p.Arg929Gln
ENST00000294618.12:c.2718+981G>A MANE Select	ENSP00000294618.6:n.2718+981G>A
ENST00000294618.11:c.2718+981G>A	ENSP00000294618.6:n.2718+981G>A
ENST00000585904.1:c.389G>A	ENSP00000465767.1:p.Arg130Gln
ENST00000587656.5:c.546G>A
ENST00000590680.5:c.1061+981G>A
NM_020812.3:c.2718+981G>A	NP_065863.2:n.2718+981G>A
XM_005260000.2:c.2786G>A	XP_005260057.1:p.Arg929Gln
XM_005260001.2:c.2786G>A	XP_005260058.1:p.Arg929Gln
XM_006722804.2:c.54+817G>A	XP_006722867.1:n.54+817G>A
XM_011528150.1:c.2819G>A	XP_011526452.1:p.Arg940Gln
XM_011528151.1:c.2751+981G>A	XP_011526453.1:n.2751+981G>A
XM_011528152.1:c.2751+981G>A	XP_011526454.1:n.2751+981G>A
XM_011528153.1:c.2819G>A	XP_011526455.1:p.Arg940Gln
XR_936195.1:n.2880G>A
XR_936196.1:n.2812+981G>A
XR_936197.1:n.2880G>A
XR_936198.1:n.2812+981G>A
XM_006722804.3:c.54+817G>A	XP_006722867.1:n.54+817G>A
NM_001367830.1:c.2786G>A	NP_001354759.1:p.Arg929Gln
NM_020812.4:c.2718+981G>A MANE Select	NP_065863.2:n.2718+981G>A