Canonical Allele Identifier: CA2689211667
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-452181-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452181A>G , CM000671.2:g.452181A>G GRCh38
NC_000009.11:g.452181A>G , CM000671.1:g.452181A>G GRCh37
NC_000009.10:g.442181A>G NCBI36
NG_017007.1:g.242317A>G , LRG_196:g.242317A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5768+64A>G ENSP00000371766.2:n.5768+64A>G
ENST00000683406.1:n.2543+64A>G
ENST00000684637.1:n.1749+64A>G
ENST00000685949.1:n.4856+64A>G
ENST00000432829.7:c.6068+64A>G MANE Select ENSP00000394888.3:n.6068+64A>G
ENST00000382329.1:c.4469+64A>G ENSP00000371766.1:n.4469+64A>G
ENST00000432829.6:c.6068+64A>G ENSP00000394888.3:n.6068+64A>G
ENST00000453981.5:c.5864+64A>G ENSP00000408464.2:n.5864+64A>G
ENST00000469391.5:c.5768+64A>G ENSP00000419438.1:n.5768+64A>G
ENST00000495184.5:n.8023+64A>G
NM_001190458.1:c.5768+64A>G NP_001177387.1:n.5768+64A>G
NM_001193536.1:c.5864+64A>G NP_001180465.1:n.5864+64A>G
NM_203447.3:c.6068+64A>G , LRG_196t1:c.6068+64A>G NP_982272.2:n.6068+64A>G
XM_011518045.1:c.5768+64A>G XP_011516347.1:n.5768+64A>G
XM_011518046.1:c.5930+64A>G XP_011516348.1:n.5930+64A>G
XM_011518047.1:c.5864+64A>G XP_011516349.1:n.5864+64A>G
XM_011518048.1:c.5864+64A>G XP_011516350.1:n.5864+64A>G
XM_011518049.1:c.4304+64A>G XP_011516351.1:n.4304+64A>G
XM_011518045.3:c.5768+64A>G XP_011516347.1:n.5768+64A>G
XM_011518046.2:c.5930+64A>G XP_011516348.1:n.5930+64A>G
XM_011518047.3:c.5864+64A>G XP_011516349.1:n.5864+64A>G
XM_011518048.2:c.5864+64A>G XP_011516350.1:n.5864+64A>G
XM_011518049.2:c.4304+64A>G XP_011516351.1:n.4304+64A>G
XM_017015173.1:c.5864+64A>G XP_016870662.1:n.5864+64A>G
XM_017015174.1:c.5930+64A>G XP_016870663.1:n.5930+64A>G
NM_001190458.2:c.5768+64A>G NP_001177387.1:n.5768+64A>G
NM_001193536.2:c.5864+64A>G NP_001180465.1:n.5864+64A>G
NM_203447.4:c.6068+64A>G MANE Select NP_982272.2:n.6068+64A>G