Canonical Allele Identifier: CA404069705

Gene: DOCK6

Linked Data

• dbSNP Id: rs1411966389
• gnomAD v2: 19-11311395-T-C
• gnomAD v3: 19-11200719-T-C
• gnomAD v4: 19-11200719-T-C
• MyVariant Identifiers: chr19:g.11311395T>C (hg19) ; chr19:g.11200719T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11200719T>C , CM000681.2:g.11200719T>C	GRCh38
NC_000019.9:g.11311395T>C , CM000681.1:g.11311395T>C	GRCh37
NC_000019.8:g.11172395T>C	NCBI36
NG_031953.1:g.66774A>G
NG_051186.1:g.1849A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.6041A>G	ENSP00000468638.2:p.Lys2014Arg
ENST00000294618.12:c.5936A>G MANE Select	ENSP00000294618.6:p.Lys1979Arg
ENST00000294618.11:c.5936A>G	ENSP00000294618.6:p.Lys1979Arg
ENST00000586702.1:n.839A>G
ENST00000587656.5:c.3801A>G
ENST00000587734.1:c.75+1170A>G	ENSP00000468291.1:n.75+1170A>G
NM_020812.3:c.5936A>G	NP_065863.2:p.Lys1979Arg
XM_005260000.2:c.6134A>G	XP_005260057.1:p.Lys2045Arg
XM_005260001.2:c.6041A>G	XP_005260058.1:p.Lys2014Arg
XM_006722804.2:c.3272A>G	XP_006722867.1:p.Lys1091Arg
XM_011528150.1:c.6074A>G	XP_011526452.1:p.Lys2025Arg
XM_011528151.1:c.6062A>G	XP_011526453.1:p.Lys2021Arg
XM_011528152.1:c.5969A>G	XP_011526454.1:p.Lys1990Arg
XR_936195.1:n.6181A>G
XM_006722804.3:c.3272A>G	XP_006722867.1:p.Lys1091Arg
NM_001367830.1:c.6041A>G	NP_001354759.1:p.Lys2014Arg
NM_020812.4:c.5936A>G MANE Select	NP_065863.2:p.Lys1979Arg