Canonical Allele Identifier: CA463701297
Gene: DOCK8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.452106A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452106A>G , CM000671.2:g.452106A>G GRCh38
NC_000009.11:g.452106A>G , CM000671.1:g.452106A>G GRCh37
NC_000009.10:g.442106A>G NCBI36
NG_017007.1:g.242242A>G , LRG_196:g.242242A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5757A>G ENSP00000371766.2:p.Glu1919=
ENST00000683406.1:n.2532A>G
ENST00000684637.1:n.1738A>G
ENST00000685949.1:n.4845A>G
ENST00000432829.7:c.6057A>G MANE Select ENSP00000394888.3:p.Glu2019=
ENST00000382329.1:c.4458A>G ENSP00000371766.1:p.Glu1486=
ENST00000432829.6:c.6057A>G ENSP00000394888.3:p.Glu2019=
ENST00000453981.5:c.5853A>G ENSP00000408464.2:p.Glu1951=
ENST00000469391.5:c.5757A>G ENSP00000419438.1:p.Glu1919=
ENST00000495184.5:n.8012A>G
NM_001190458.1:c.5757A>G NP_001177387.1:p.Glu1919=
NM_001193536.1:c.5853A>G NP_001180465.1:p.Glu1951=
NM_203447.3:c.6057A>G , LRG_196t1:c.6057A>G NP_982272.2:p.Glu2019=
XM_011518045.1:c.5757A>G XP_011516347.1:p.Glu1919=
XM_011518046.1:c.5919A>G XP_011516348.1:p.Glu1973=
XM_011518047.1:c.5853A>G XP_011516349.1:p.Glu1951=
XM_011518048.1:c.5853A>G XP_011516350.1:p.Glu1951=
XM_011518049.1:c.4293A>G XP_011516351.1:p.Glu1431=
XM_011518045.3:c.5757A>G XP_011516347.1:p.Glu1919=
XM_011518046.2:c.5919A>G XP_011516348.1:p.Glu1973=
XM_011518047.3:c.5853A>G XP_011516349.1:p.Glu1951=
XM_011518048.2:c.5853A>G XP_011516350.1:p.Glu1951=
XM_011518049.2:c.4293A>G XP_011516351.1:p.Glu1431=
XM_017015173.1:c.5853A>G XP_016870662.1:p.Glu1951=
XM_017015174.1:c.5919A>G XP_016870663.1:p.Glu1973=
NM_001190458.2:c.5757A>G NP_001177387.1:p.Glu1919=
NM_001193536.2:c.5853A>G NP_001180465.1:p.Glu1951=
NM_203447.4:c.6057A>G MANE Select NP_982272.2:p.Glu2019=