Canonical Allele Identifier: CA2689211298
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-451887-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.451887A>C , CM000671.2:g.451887A>C GRCh38
NC_000009.11:g.451887A>C , CM000671.1:g.451887A>C GRCh37
NC_000009.10:g.441887A>C NCBI36
NG_017007.1:g.242023A>C , LRG_196:g.242023A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5662-124A>C ENSP00000371766.2:n.5662-124A>C
ENST00000683406.1:n.2437-124A>C
ENST00000684637.1:n.1643-124A>C
ENST00000685949.1:n.4750-124A>C
ENST00000432829.7:c.5962-124A>C MANE Select ENSP00000394888.3:n.5962-124A>C
ENST00000382329.1:c.4363-124A>C ENSP00000371766.1:n.4363-124A>C
ENST00000432829.6:c.5962-124A>C ENSP00000394888.3:n.5962-124A>C
ENST00000453981.5:c.5758-124A>C ENSP00000408464.2:n.5758-124A>C
ENST00000469391.5:c.5662-124A>C ENSP00000419438.1:n.5662-124A>C
ENST00000495184.5:n.7917-124A>C
NM_001190458.1:c.5662-124A>C NP_001177387.1:n.5662-124A>C
NM_001193536.1:c.5758-124A>C NP_001180465.1:n.5758-124A>C
NM_203447.3:c.5962-124A>C , LRG_196t1:c.5962-124A>C NP_982272.2:n.5962-124A>C
XM_011518045.1:c.5662-124A>C XP_011516347.1:n.5662-124A>C
XM_011518046.1:c.5824-124A>C XP_011516348.1:n.5824-124A>C
XM_011518047.1:c.5758-124A>C XP_011516349.1:n.5758-124A>C
XM_011518048.1:c.5758-124A>C XP_011516350.1:n.5758-124A>C
XM_011518049.1:c.4198-124A>C XP_011516351.1:n.4198-124A>C
XM_011518045.3:c.5662-124A>C XP_011516347.1:n.5662-124A>C
XM_011518046.2:c.5824-124A>C XP_011516348.1:n.5824-124A>C
XM_011518047.3:c.5758-124A>C XP_011516349.1:n.5758-124A>C
XM_011518048.2:c.5758-124A>C XP_011516350.1:n.5758-124A>C
XM_011518049.2:c.4198-124A>C XP_011516351.1:n.4198-124A>C
XM_017015173.1:c.5758-124A>C XP_016870662.1:n.5758-124A>C
XM_017015174.1:c.5824-124A>C XP_016870663.1:n.5824-124A>C
NM_001190458.2:c.5662-124A>C NP_001177387.1:n.5662-124A>C
NM_001193536.2:c.5758-124A>C NP_001180465.1:n.5758-124A>C
NM_203447.4:c.5962-124A>C MANE Select NP_982272.2:n.5962-124A>C