Canonical Allele Identifier: CA404069681

Gene: DOCK6

Linked Data

• gnomAD v4: 19-11200715-C-T
• MyVariant Identifiers: chr19:g.11311391C>T (hg19) ; chr19:g.11200715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11200715C>T , CM000681.2:g.11200715C>T	GRCh38
NC_000019.9:g.11311391C>T , CM000681.1:g.11311391C>T	GRCh37
NC_000019.8:g.11172391C>T	NCBI36
NG_031953.1:g.66778G>A
NG_051186.1:g.1853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.6044+1G>A	ENSP00000468638.2:n.6044+1G>A
ENST00000294618.12:c.5939+1G>A MANE Select	ENSP00000294618.6:n.5939+1G>A
ENST00000294618.11:c.5939+1G>A	ENSP00000294618.6:n.5939+1G>A
ENST00000586702.1:n.842+1G>A
ENST00000587656.5:c.3804+1G>A
ENST00000587734.1:c.75+1174G>A	ENSP00000468291.1:n.75+1174G>A
NM_020812.3:c.5939+1G>A	NP_065863.2:n.5939+1G>A
XM_005260000.2:c.6137+1G>A	XP_005260057.1:n.6137+1G>A
XM_005260001.2:c.6044+1G>A	XP_005260058.1:n.6044+1G>A
XM_006722804.2:c.3275+1G>A	XP_006722867.1:n.3275+1G>A
XM_011528150.1:c.6077+1G>A	XP_011526452.1:n.6077+1G>A
XM_011528151.1:c.6065+1G>A	XP_011526453.1:n.6065+1G>A
XM_011528152.1:c.5972+1G>A	XP_011526454.1:n.5972+1G>A
XR_936195.1:n.6184+1G>A
XM_006722804.3:c.3275+1G>A	XP_006722867.1:n.3275+1G>A
NM_001367830.1:c.6044+1G>A	NP_001354759.1:n.6044+1G>A
NM_020812.4:c.5939+1G>A MANE Select	NP_065863.2:n.5939+1G>A