Canonical Allele Identifier: CA463848284
Gene: DOCK8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.376988G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.376988G>A , CM000671.2:g.376988G>A GRCh38
NC_000009.11:g.376988G>A , CM000671.1:g.376988G>A GRCh37
NC_000009.10:g.366988G>A NCBI36
NG_017007.1:g.167124G>A , LRG_196:g.167124G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2013G>A ENSP00000371766.2:p.Leu671=
ENST00000382331.6:n.714G>A
ENST00000483757.6:c.*904G>A ENSP00000417691.2:n.*904G>A
ENST00000682260.1:n.2113G>A
ENST00000685949.1:n.1005G>A
ENST00000432829.7:c.2217G>A MANE Select ENSP00000394888.3:p.Leu739=
ENST00000382329.1:c.618G>A ENSP00000371766.1:p.Leu206=
ENST00000382331.5:c.123G>A ENSP00000371768.1:p.Leu41=
ENST00000432829.6:c.2217G>A ENSP00000394888.3:p.Leu739=
ENST00000453981.5:c.2013G>A ENSP00000408464.2:p.Leu671=
ENST00000469391.5:c.2013G>A ENSP00000419438.1:p.Leu671=
ENST00000483757.5:c.*1692G>A ENSP00000417691.1:n.*1692G>A
ENST00000495184.5:n.4172G>A
NM_001190458.1:c.2013G>A NP_001177387.1:p.Leu671=
NM_001193536.1:c.2013G>A NP_001180465.1:p.Leu671=
NM_203447.3:c.2217G>A , LRG_196t1:c.2217G>A NP_982272.2:p.Leu739=
XM_011518045.1:c.2013G>A XP_011516347.1:p.Leu671=
XM_011518046.1:c.2079G>A XP_011516348.1:p.Leu693=
XM_011518047.1:c.2013G>A XP_011516349.1:p.Leu671=
XM_011518048.1:c.2013G>A XP_011516350.1:p.Leu671=
XM_011518049.1:c.453G>A XP_011516351.1:p.Leu151=
XM_011518045.3:c.2013G>A XP_011516347.1:p.Leu671=
XM_011518046.2:c.2079G>A XP_011516348.1:p.Leu693=
XM_011518047.3:c.2013G>A XP_011516349.1:p.Leu671=
XM_011518048.2:c.2013G>A XP_011516350.1:p.Leu671=
XM_011518049.2:c.453G>A XP_011516351.1:p.Leu151=
XM_017015173.1:c.2013G>A XP_016870662.1:p.Leu671=
XM_017015174.1:c.2079G>A XP_016870663.1:p.Leu693=
NM_001190458.2:c.2013G>A NP_001177387.1:p.Leu671=
NM_001193536.2:c.2013G>A NP_001180465.1:p.Leu671=
NM_203447.4:c.2217G>A MANE Select NP_982272.2:p.Leu739=