Canonical Allele Identifier: CA372769827
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452102A>T , CM000671.2:g.452102A>T GRCh38
NC_000009.11:g.452102A>T , CM000671.1:g.452102A>T GRCh37
NC_000009.10:g.442102A>T NCBI36
NG_017007.1:g.242238A>T , LRG_196:g.242238A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5753A>T ENSP00000371766.2:p.Lys1918Met
ENST00000683406.1:n.2528A>T
ENST00000684637.1:n.1734A>T
ENST00000685949.1:n.4841A>T
ENST00000432829.7:c.6053A>T MANE Select ENSP00000394888.3:p.Lys2018Met
ENST00000382329.1:c.4454A>T ENSP00000371766.1:p.Lys1485Met
ENST00000432829.6:c.6053A>T ENSP00000394888.3:p.Lys2018Met
ENST00000453981.5:c.5849A>T ENSP00000408464.2:p.Lys1950Met
ENST00000469391.5:c.5753A>T ENSP00000419438.1:p.Lys1918Met
ENST00000495184.5:n.8008A>T
NM_001190458.1:c.5753A>T NP_001177387.1:p.Lys1918Met
NM_001193536.1:c.5849A>T NP_001180465.1:p.Lys1950Met
NM_203447.3:c.6053A>T , LRG_196t1:c.6053A>T NP_982272.2:p.Lys2018Met
XM_011518045.1:c.5753A>T XP_011516347.1:p.Lys1918Met
XM_011518046.1:c.5915A>T XP_011516348.1:p.Lys1972Met
XM_011518047.1:c.5849A>T XP_011516349.1:p.Lys1950Met
XM_011518048.1:c.5849A>T XP_011516350.1:p.Lys1950Met
XM_011518049.1:c.4289A>T XP_011516351.1:p.Lys1430Met
XM_011518045.3:c.5753A>T XP_011516347.1:p.Lys1918Met
XM_011518046.2:c.5915A>T XP_011516348.1:p.Lys1972Met
XM_011518047.3:c.5849A>T XP_011516349.1:p.Lys1950Met
XM_011518048.2:c.5849A>T XP_011516350.1:p.Lys1950Met
XM_011518049.2:c.4289A>T XP_011516351.1:p.Lys1430Met
XM_017015173.1:c.5849A>T XP_016870662.1:p.Lys1950Met
XM_017015174.1:c.5915A>T XP_016870663.1:p.Lys1972Met
NM_001190458.2:c.5753A>T NP_001177387.1:p.Lys1918Met
NM_001193536.2:c.5849A>T NP_001180465.1:p.Lys1950Met
NM_203447.4:c.6053A>T MANE Select NP_982272.2:p.Lys2018Met