Canonical Allele Identifier: CA404094580

Gene: DOCK6

Linked Data

• dbSNP Id: rs1161658679
• gnomAD v2: 19-11342934-G-T
• gnomAD v3: 19-11232258-G-T
• gnomAD v4: 19-11232258-G-T
• MyVariant Identifiers: chr19:g.11342934G>T (hg19) ; chr19:g.11232258G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11232258G>T , CM000681.2:g.11232258G>T	GRCh38
NC_000019.9:g.11342934G>T , CM000681.1:g.11342934G>T	GRCh37
NC_000019.8:g.11203934G>T	NCBI36
NG_031953.1:g.35235C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.2750C>A	ENSP00000468638.2:p.Ser917Tyr
ENST00000294618.12:c.2718+945C>A MANE Select	ENSP00000294618.6:n.2718+945C>A
ENST00000294618.11:c.2718+945C>A	ENSP00000294618.6:n.2718+945C>A
ENST00000585904.1:c.353C>A	ENSP00000465767.1:p.Ser118Tyr
ENST00000587656.5:c.510C>A
ENST00000590680.5:c.1061+945C>A
NM_020812.3:c.2718+945C>A	NP_065863.2:n.2718+945C>A
XM_005260000.2:c.2750C>A	XP_005260057.1:p.Ser917Tyr
XM_005260001.2:c.2750C>A	XP_005260058.1:p.Ser917Tyr
XM_006722804.2:c.54+781C>A	XP_006722867.1:n.54+781C>A
XM_011528150.1:c.2783C>A	XP_011526452.1:p.Ser928Tyr
XM_011528151.1:c.2751+945C>A	XP_011526453.1:n.2751+945C>A
XM_011528152.1:c.2751+945C>A	XP_011526454.1:n.2751+945C>A
XM_011528153.1:c.2783C>A	XP_011526455.1:p.Ser928Tyr
XR_936195.1:n.2844C>A
XR_936196.1:n.2812+945C>A
XR_936197.1:n.2844C>A
XR_936198.1:n.2812+945C>A
XM_006722804.3:c.54+781C>A	XP_006722867.1:n.54+781C>A
NM_001367830.1:c.2750C>A	NP_001354759.1:p.Ser917Tyr
NM_020812.4:c.2718+945C>A MANE Select	NP_065863.2:n.2718+945C>A