Canonical Allele Identifier: CA404115391

Gene: DOCK6

Linked Data

• ClinVar Variation Id: 499282
• ClinVar RCV Id: RCV000596645 ; RCV001261946
• dbSNP Id: rs1555697020
• MyVariant Identifiers: chr19:g.11361565G>C (hg19) ; chr19:g.11250889G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11250889G>C , CM000681.2:g.11250889G>C	GRCh38
NC_000019.9:g.11361565G>C , CM000681.1:g.11361565G>C	GRCh37
NC_000019.8:g.11222565G>C	NCBI36
NG_031953.1:g.16604C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.705C>G	ENSP00000468638.2:p.Tyr235Ter
ENST00000294618.12:c.705C>G MANE Select	ENSP00000294618.6:p.Tyr235Ter
ENST00000294618.11:c.705C>G	ENSP00000294618.6:p.Tyr235Ter
ENST00000585609.1:n.2243C>G
NM_020812.3:c.705C>G	NP_065863.2:p.Tyr235Ter
XM_005260000.2:c.705C>G	XP_005260057.1:p.Tyr235Ter
XM_005260001.2:c.705C>G	XP_005260058.1:p.Tyr235Ter
XM_011528150.1:c.738C>G	XP_011526452.1:p.Tyr246Ter
XM_011528151.1:c.738C>G	XP_011526453.1:p.Tyr246Ter
XM_011528152.1:c.738C>G	XP_011526454.1:p.Tyr246Ter
XM_011528153.1:c.738C>G	XP_011526455.1:p.Tyr246Ter
XR_936195.1:n.799C>G
XR_936196.1:n.799C>G
XR_936197.1:n.799C>G
XR_936198.1:n.799C>G
NM_001367830.1:c.705C>G	NP_001354759.1:p.Tyr235Ter
NM_020812.4:c.705C>G MANE Select	NP_065863.2:p.Tyr235Ter