Canonical Allele Identifier: CA404094510

Gene: DOCK6

Linked Data

• MyVariant Identifiers: chr19:g.11342901A>C (hg19) ; chr19:g.11232225A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11232225A>C , CM000681.2:g.11232225A>C	GRCh38
NC_000019.9:g.11342901A>C , CM000681.1:g.11342901A>C	GRCh37
NC_000019.8:g.11203901A>C	NCBI36
NG_031953.1:g.35268T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.2783T>G	ENSP00000468638.2:p.Leu928Arg
ENST00000294618.12:c.2718+978T>G MANE Select	ENSP00000294618.6:n.2718+978T>G
ENST00000294618.11:c.2718+978T>G	ENSP00000294618.6:n.2718+978T>G
ENST00000585904.1:c.386T>G	ENSP00000465767.1:p.Leu129Arg
ENST00000587656.5:c.543T>G
ENST00000590680.5:c.1061+978T>G
NM_020812.3:c.2718+978T>G	NP_065863.2:n.2718+978T>G
XM_005260000.2:c.2783T>G	XP_005260057.1:p.Leu928Arg
XM_005260001.2:c.2783T>G	XP_005260058.1:p.Leu928Arg
XM_006722804.2:c.54+814T>G	XP_006722867.1:n.54+814T>G
XM_011528150.1:c.2816T>G	XP_011526452.1:p.Leu939Arg
XM_011528151.1:c.2751+978T>G	XP_011526453.1:n.2751+978T>G
XM_011528152.1:c.2751+978T>G	XP_011526454.1:n.2751+978T>G
XM_011528153.1:c.2816T>G	XP_011526455.1:p.Leu939Arg
XR_936195.1:n.2877T>G
XR_936196.1:n.2812+978T>G
XR_936197.1:n.2877T>G
XR_936198.1:n.2812+978T>G
XM_006722804.3:c.54+814T>G	XP_006722867.1:n.54+814T>G
NM_001367830.1:c.2783T>G	NP_001354759.1:p.Leu928Arg
NM_020812.4:c.2718+978T>G MANE Select	NP_065863.2:n.2718+978T>G