Canonical Allele Identifier: CA404094641

Gene: DOCK6

Linked Data

• dbSNP Id: rs1395803135
• gnomAD v3: 19-11232285-A-G
• gnomAD v4: 19-11232285-A-G
• MyVariant Identifiers: chr19:g.11342961A>G (hg19) ; chr19:g.11232285A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11232285A>G , CM000681.2:g.11232285A>G	GRCh38
NC_000019.9:g.11342961A>G , CM000681.1:g.11342961A>G	GRCh37
NC_000019.8:g.11203961A>G	NCBI36
NG_031953.1:g.35208T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.2723T>C	ENSP00000468638.2:p.Ile908Thr
ENST00000294618.12:c.2718+918T>C MANE Select	ENSP00000294618.6:n.2718+918T>C
ENST00000294618.11:c.2718+918T>C	ENSP00000294618.6:n.2718+918T>C
ENST00000585904.1:c.326T>C	ENSP00000465767.1:p.Ile109Thr
ENST00000587656.5:c.483T>C
ENST00000590680.5:c.1061+918T>C
NM_020812.3:c.2718+918T>C	NP_065863.2:n.2718+918T>C
XM_005260000.2:c.2723T>C	XP_005260057.1:p.Ile908Thr
XM_005260001.2:c.2723T>C	XP_005260058.1:p.Ile908Thr
XM_006722804.2:c.54+754T>C	XP_006722867.1:n.54+754T>C
XM_011528150.1:c.2756T>C	XP_011526452.1:p.Ile919Thr
XM_011528151.1:c.2751+918T>C	XP_011526453.1:n.2751+918T>C
XM_011528152.1:c.2751+918T>C	XP_011526454.1:n.2751+918T>C
XM_011528153.1:c.2756T>C	XP_011526455.1:p.Ile919Thr
XR_936195.1:n.2817T>C
XR_936196.1:n.2812+918T>C
XR_936197.1:n.2817T>C
XR_936198.1:n.2812+918T>C
XM_006722804.3:c.54+754T>C	XP_006722867.1:n.54+754T>C
NM_001367830.1:c.2723T>C	NP_001354759.1:p.Ile908Thr
NM_020812.4:c.2718+918T>C MANE Select	NP_065863.2:n.2718+918T>C