Canonical Allele Identifier: CA463699932
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-441369-A-G
MyVariant Identifiers: chr9:g.441369A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.441369A>G , CM000671.2:g.441369A>G GRCh38
NC_000009.11:g.441369A>G , CM000671.1:g.441369A>G GRCh37
NC_000009.10:g.431369A>G NCBI36
NG_017007.1:g.231505A>G , LRG_196:g.231505A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.5007A>G ENSP00000371766.2:p.Thr1669=
ENST00000683406.1:n.1782A>G
ENST00000684637.1:n.988A>G
ENST00000685949.1:n.4095A>G
ENST00000432829.7:c.5307A>G MANE Select ENSP00000394888.3:p.Thr1769=
ENST00000382329.1:c.3708A>G ENSP00000371766.1:p.Thr1236=
ENST00000432829.6:c.5307A>G ENSP00000394888.3:p.Thr1769=
ENST00000453981.5:c.5103A>G ENSP00000408464.2:p.Thr1701=
ENST00000469391.5:c.5007A>G ENSP00000419438.1:p.Thr1669=
ENST00000495184.5:n.7262A>G
NM_001190458.1:c.5007A>G NP_001177387.1:p.Thr1669=
NM_001193536.1:c.5103A>G NP_001180465.1:p.Thr1701=
NM_203447.3:c.5307A>G , LRG_196t1:c.5307A>G NP_982272.2:p.Thr1769=
XM_011518045.1:c.5007A>G XP_011516347.1:p.Thr1669=
XM_011518046.1:c.5169A>G XP_011516348.1:p.Thr1723=
XM_011518047.1:c.5103A>G XP_011516349.1:p.Thr1701=
XM_011518048.1:c.5103A>G XP_011516350.1:p.Thr1701=
XM_011518049.1:c.3543A>G XP_011516351.1:p.Thr1181=
XM_011518045.3:c.5007A>G XP_011516347.1:p.Thr1669=
XM_011518046.2:c.5169A>G XP_011516348.1:p.Thr1723=
XM_011518047.3:c.5103A>G XP_011516349.1:p.Thr1701=
XM_011518048.2:c.5103A>G XP_011516350.1:p.Thr1701=
XM_011518049.2:c.3543A>G XP_011516351.1:p.Thr1181=
XM_017015173.1:c.5103A>G XP_016870662.1:p.Thr1701=
XM_017015174.1:c.5169A>G XP_016870663.1:p.Thr1723=
NM_001190458.2:c.5007A>G NP_001177387.1:p.Thr1669=
NM_001193536.2:c.5103A>G NP_001180465.1:p.Thr1701=
NM_203447.4:c.5307A>G MANE Select NP_982272.2:p.Thr1769=