Canonical Allele Identifier: CA404094601

Gene: DOCK6

Linked Data

• gnomAD v4: 19-11232267-C-G
• MyVariant Identifiers: chr19:g.11342943C>G (hg19) ; chr19:g.11232267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11232267C>G , CM000681.2:g.11232267C>G	GRCh38
NC_000019.9:g.11342943C>G , CM000681.1:g.11342943C>G	GRCh37
NC_000019.8:g.11203943C>G	NCBI36
NG_031953.1:g.35226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.2741G>C	ENSP00000468638.2:p.Trp914Ser
ENST00000294618.12:c.2718+936G>C MANE Select	ENSP00000294618.6:n.2718+936G>C
ENST00000294618.11:c.2718+936G>C	ENSP00000294618.6:n.2718+936G>C
ENST00000585904.1:c.344G>C	ENSP00000465767.1:p.Trp115Ser
ENST00000587656.5:c.501G>C
ENST00000590680.5:c.1061+936G>C
NM_020812.3:c.2718+936G>C	NP_065863.2:n.2718+936G>C
XM_005260000.2:c.2741G>C	XP_005260057.1:p.Trp914Ser
XM_005260001.2:c.2741G>C	XP_005260058.1:p.Trp914Ser
XM_006722804.2:c.54+772G>C	XP_006722867.1:n.54+772G>C
XM_011528150.1:c.2774G>C	XP_011526452.1:p.Trp925Ser
XM_011528151.1:c.2751+936G>C	XP_011526453.1:n.2751+936G>C
XM_011528152.1:c.2751+936G>C	XP_011526454.1:n.2751+936G>C
XM_011528153.1:c.2774G>C	XP_011526455.1:p.Trp925Ser
XR_936195.1:n.2835G>C
XR_936196.1:n.2812+936G>C
XR_936197.1:n.2835G>C
XR_936198.1:n.2812+936G>C
XM_006722804.3:c.54+772G>C	XP_006722867.1:n.54+772G>C
NM_001367830.1:c.2741G>C	NP_001354759.1:p.Trp914Ser
NM_020812.4:c.2718+936G>C MANE Select	NP_065863.2:n.2718+936G>C