Canonical Allele Identifier: CA305315901

Gene: DOCK6

Linked Data

• dbSNP Id: rs143204208
• gnomAD v2: 19-11331000-C-G
• gnomAD v3: 19-11220324-C-G
• gnomAD v4: 19-11220324-C-G
• MyVariant Identifiers: chr19:g.11331000C>G (hg19) ; chr19:g.11220324C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11220324C>G , CM000681.2:g.11220324C>G	GRCh38
NC_000019.9:g.11331000C>G , CM000681.1:g.11331000C>G	GRCh37
NC_000019.8:g.11192000C>G	NCBI36
NG_031953.1:g.47169G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000587656.6:c.3655+1527G>C	ENSP00000468638.2:n.3655+1527G>C
ENST00000294618.12:c.3550+1527G>C MANE Select	ENSP00000294618.6:n.3550+1527G>C
ENST00000294618.11:c.3550+1527G>C	ENSP00000294618.6:n.3550+1527G>C
ENST00000587656.5:c.1415+1527G>C
NM_020812.3:c.3550+1527G>C	NP_065863.2:n.3550+1527G>C
XM_005260000.2:c.3748+1527G>C	XP_005260057.1:n.3748+1527G>C
XM_005260001.2:c.3655+1527G>C	XP_005260058.1:n.3655+1527G>C
XM_006722804.2:c.886+1527G>C	XP_006722867.1:n.886+1527G>C
XM_011528150.1:c.3688+1527G>C	XP_011526452.1:n.3688+1527G>C
XM_011528151.1:c.3676+1527G>C	XP_011526453.1:n.3676+1527G>C
XM_011528152.1:c.3583+1527G>C	XP_011526454.1:n.3583+1527G>C
XM_011528153.1:c.3688+1527G>C	XP_011526455.1:n.3688+1527G>C
XR_936195.1:n.3749+1527G>C
XR_936196.1:n.3766+1527G>C
XM_006722804.3:c.886+1527G>C	XP_006722867.1:n.886+1527G>C
NM_001367830.1:c.3655+1527G>C	NP_001354759.1:n.3655+1527G>C
NM_020812.4:c.3550+1527G>C MANE Select	NP_065863.2:n.3550+1527G>C