Canonical Allele Identifier: CA2579287685
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-452160-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452160C>A , CM000671.2:g.452160C>A GRCh38
NC_000009.11:g.452160C>A , CM000671.1:g.452160C>A GRCh37
NC_000009.10:g.442160C>A NCBI36
NG_017007.1:g.242296C>A , LRG_196:g.242296C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5768+43C>A ENSP00000371766.2:n.5768+43C>A
ENST00000683406.1:n.2543+43C>A
ENST00000684637.1:n.1749+43C>A
ENST00000685949.1:n.4856+43C>A
ENST00000432829.7:c.6068+43C>A MANE Select ENSP00000394888.3:n.6068+43C>A
ENST00000382329.1:c.4469+43C>A ENSP00000371766.1:n.4469+43C>A
ENST00000432829.6:c.6068+43C>A ENSP00000394888.3:n.6068+43C>A
ENST00000453981.5:c.5864+43C>A ENSP00000408464.2:n.5864+43C>A
ENST00000469391.5:c.5768+43C>A ENSP00000419438.1:n.5768+43C>A
ENST00000495184.5:n.8023+43C>A
NM_001190458.1:c.5768+43C>A NP_001177387.1:n.5768+43C>A
NM_001193536.1:c.5864+43C>A NP_001180465.1:n.5864+43C>A
NM_203447.3:c.6068+43C>A , LRG_196t1:c.6068+43C>A NP_982272.2:n.6068+43C>A
XM_011518045.1:c.5768+43C>A XP_011516347.1:n.5768+43C>A
XM_011518046.1:c.5930+43C>A XP_011516348.1:n.5930+43C>A
XM_011518047.1:c.5864+43C>A XP_011516349.1:n.5864+43C>A
XM_011518048.1:c.5864+43C>A XP_011516350.1:n.5864+43C>A
XM_011518049.1:c.4304+43C>A XP_011516351.1:n.4304+43C>A
XM_011518045.3:c.5768+43C>A XP_011516347.1:n.5768+43C>A
XM_011518046.2:c.5930+43C>A XP_011516348.1:n.5930+43C>A
XM_011518047.3:c.5864+43C>A XP_011516349.1:n.5864+43C>A
XM_011518048.2:c.5864+43C>A XP_011516350.1:n.5864+43C>A
XM_011518049.2:c.4304+43C>A XP_011516351.1:n.4304+43C>A
XM_017015173.1:c.5864+43C>A XP_016870662.1:n.5864+43C>A
XM_017015174.1:c.5930+43C>A XP_016870663.1:n.5930+43C>A
NM_001190458.2:c.5768+43C>A NP_001177387.1:n.5768+43C>A
NM_001193536.2:c.5864+43C>A NP_001180465.1:n.5864+43C>A
NM_203447.4:c.6068+43C>A MANE Select NP_982272.2:n.6068+43C>A