Canonical Allele Identifier: CA2596571613

Gene: DOK6

Linked Data

• dbSNP Id: rs2144634500
• gnomAD v3: 18-69615798-T-C
• gnomAD v4: 18-69615798-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.69615798T>C , CM000680.2:g.69615798T>C	GRCh38
NC_000018.9:g.67283034T>C , CM000680.1:g.67283034T>C	GRCh37
NC_000018.8:g.65434014T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000382713.10:c.289+16300T>C MANE Select	ENSP00000372160.5:n.289+16300T>C
ENST00000382713.9:c.289+16300T>C	ENSP00000372160.5:n.289+16300T>C
NM_152721.5:c.289+16300T>C	NP_689934.2:n.289+16300T>C
XM_011525873.1:c.289+16300T>C	XP_011524175.1:n.289+16300T>C
XM_011525874.1:c.289+16300T>C	XP_011524176.1:n.289+16300T>C
XM_011525875.1:c.289+16300T>C	XP_011524177.1:n.289+16300T>C
XM_011525875.2:c.289+16300T>C	XP_011524177.1:n.289+16300T>C
NM_152721.6:c.289+16300T>C MANE Select	NP_689934.2:n.289+16300T>C