Canonical Allele Identifier: CA404094518

Gene: DOCK6

Linked Data

• MyVariant Identifiers: chr19:g.11342905C>A (hg19) ; chr19:g.11232229C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11232229C>A , CM000681.2:g.11232229C>A	GRCh38
NC_000019.9:g.11342905C>A , CM000681.1:g.11342905C>A	GRCh37
NC_000019.8:g.11203905C>A	NCBI36
NG_031953.1:g.35264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.2779G>T	ENSP00000468638.2:p.Val927Leu
ENST00000294618.12:c.2718+974G>T MANE Select	ENSP00000294618.6:n.2718+974G>T
ENST00000294618.11:c.2718+974G>T	ENSP00000294618.6:n.2718+974G>T
ENST00000585904.1:c.382G>T	ENSP00000465767.1:p.Val128Leu
ENST00000587656.5:c.539G>T
ENST00000590680.5:c.1061+974G>T
NM_020812.3:c.2718+974G>T	NP_065863.2:n.2718+974G>T
XM_005260000.2:c.2779G>T	XP_005260057.1:p.Val927Leu
XM_005260001.2:c.2779G>T	XP_005260058.1:p.Val927Leu
XM_006722804.2:c.54+810G>T	XP_006722867.1:n.54+810G>T
XM_011528150.1:c.2812G>T	XP_011526452.1:p.Val938Leu
XM_011528151.1:c.2751+974G>T	XP_011526453.1:n.2751+974G>T
XM_011528152.1:c.2751+974G>T	XP_011526454.1:n.2751+974G>T
XM_011528153.1:c.2812G>T	XP_011526455.1:p.Val938Leu
XR_936195.1:n.2873G>T
XR_936196.1:n.2812+974G>T
XR_936197.1:n.2873G>T
XR_936198.1:n.2812+974G>T
XM_006722804.3:c.54+810G>T	XP_006722867.1:n.54+810G>T
NM_001367830.1:c.2779G>T	NP_001354759.1:p.Val927Leu
NM_020812.4:c.2718+974G>T MANE Select	NP_065863.2:n.2718+974G>T