Canonical Allele Identifier: CA372768095
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.441362A>T , CM000671.2:g.441362A>T GRCh38
NC_000009.11:g.441362A>T , CM000671.1:g.441362A>T GRCh37
NC_000009.10:g.431362A>T NCBI36
NG_017007.1:g.231498A>T , LRG_196:g.231498A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.5000A>T ENSP00000371766.2:p.Lys1667Met
ENST00000683406.1:n.1775A>T
ENST00000684637.1:n.981A>T
ENST00000685949.1:n.4088A>T
ENST00000432829.7:c.5300A>T MANE Select ENSP00000394888.3:p.Lys1767Met
ENST00000382329.1:c.3701A>T ENSP00000371766.1:p.Lys1234Met
ENST00000432829.6:c.5300A>T ENSP00000394888.3:p.Lys1767Met
ENST00000453981.5:c.5096A>T ENSP00000408464.2:p.Lys1699Met
ENST00000469391.5:c.5000A>T ENSP00000419438.1:p.Lys1667Met
ENST00000495184.5:n.7255A>T
NM_001190458.1:c.5000A>T NP_001177387.1:p.Lys1667Met
NM_001193536.1:c.5096A>T NP_001180465.1:p.Lys1699Met
NM_203447.3:c.5300A>T , LRG_196t1:c.5300A>T NP_982272.2:p.Lys1767Met
XM_011518045.1:c.5000A>T XP_011516347.1:p.Lys1667Met
XM_011518046.1:c.5162A>T XP_011516348.1:p.Lys1721Met
XM_011518047.1:c.5096A>T XP_011516349.1:p.Lys1699Met
XM_011518048.1:c.5096A>T XP_011516350.1:p.Lys1699Met
XM_011518049.1:c.3536A>T XP_011516351.1:p.Lys1179Met
XM_011518045.3:c.5000A>T XP_011516347.1:p.Lys1667Met
XM_011518046.2:c.5162A>T XP_011516348.1:p.Lys1721Met
XM_011518047.3:c.5096A>T XP_011516349.1:p.Lys1699Met
XM_011518048.2:c.5096A>T XP_011516350.1:p.Lys1699Met
XM_011518049.2:c.3536A>T XP_011516351.1:p.Lys1179Met
XM_017015173.1:c.5096A>T XP_016870662.1:p.Lys1699Met
XM_017015174.1:c.5162A>T XP_016870663.1:p.Lys1721Met
NM_001190458.2:c.5000A>T NP_001177387.1:p.Lys1667Met
NM_001193536.2:c.5096A>T NP_001180465.1:p.Lys1699Met
NM_203447.4:c.5300A>T MANE Select NP_982272.2:p.Lys1767Met