Canonical Allele Identifier: CA9208603
Gene: DOCK6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.11252919C>A
GRCh37 chr19:g.11363595C>A
Revel Score:
ENST00000294618 (MANE Select) 0.171
gnomAD v2:
19:11363595 C / A
gnomAD v3:
19:11252919 C / A
gnomAD v4:
chr19-11252919-C-A
Joint Max Group AF 0.00006727 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.000067 (NFE)
ClinVar RCV:
RCV003551099
RCV003954256
ClinVar Variation:
2718276
dbSNP:
763117803
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11252919C>A , CM000681.2:g.11252919C>A GRCh38
NC_000019.9:g.11363595C>A , CM000681.1:g.11363595C>A GRCh37
NC_000019.8:g.11224595C>A NCBI36
NG_031953.1:g.14574G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587656.6:c.172G>T ENSP00000468638.2:p.Asp58Tyr
ENST00000294618.12:c.172G>T MANE Select ENSP00000294618.6:p.Asp58Tyr
ENST00000294618.11:c.172G>T ENSP00000294618.6:p.Asp58Tyr
ENST00000585609.1:n.213G>T
ENST00000586482.1:n.69G>T
ENST00000587572.1:n.450G>T
NM_020812.3:c.172G>T NP_065863.2:p.Asp58Tyr
XM_005260000.2:c.172G>T XP_005260057.1:p.Asp58Tyr
XM_005260001.2:c.172G>T XP_005260058.1:p.Asp58Tyr
XM_011528150.1:c.172G>T XP_011526452.1:p.Asp58Tyr
XM_011528151.1:c.172G>T XP_011526453.1:p.Asp58Tyr
XM_011528152.1:c.172G>T XP_011526454.1:p.Asp58Tyr
XM_011528153.1:c.172G>T XP_011526455.1:p.Asp58Tyr
XR_936195.1:n.233G>T
XR_936196.1:n.233G>T
XR_936197.1:n.233G>T
XR_936198.1:n.233G>T
NM_001367830.1:c.172G>T NP_001354759.1:p.Asp58Tyr
NM_020812.4:c.172G>T MANE Select NP_065863.2:p.Asp58Tyr
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