Canonical Allele Identifier: CA372760775
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.414885G>C , CM000671.2:g.414885G>C GRCh38
NC_000009.11:g.414885G>C , CM000671.1:g.414885G>C GRCh37
NC_000009.10:g.404885G>C NCBI36
NG_017007.1:g.205021G>C , LRG_196:g.205021G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.3334G>C ENSP00000371766.2:p.Ala1112Pro
ENST00000683406.1:n.155G>C
ENST00000685949.1:n.2422G>C
ENST00000432829.7:c.3634G>C MANE Select ENSP00000394888.3:p.Ala1212Pro
ENST00000382329.1:c.2035G>C ENSP00000371766.1:p.Ala679Pro
ENST00000432829.6:c.3634G>C ENSP00000394888.3:p.Ala1212Pro
ENST00000453981.5:c.3430G>C ENSP00000408464.2:p.Ala1144Pro
ENST00000469391.5:c.3334G>C ENSP00000419438.1:p.Ala1112Pro
ENST00000495184.5:n.5589G>C
NM_001190458.1:c.3334G>C NP_001177387.1:p.Ala1112Pro
NM_001193536.1:c.3430G>C NP_001180465.1:p.Ala1144Pro
NM_203447.3:c.3634G>C , LRG_196t1:c.3634G>C NP_982272.2:p.Ala1212Pro
XM_011518045.1:c.3334G>C XP_011516347.1:p.Ala1112Pro
XM_011518046.1:c.3496G>C XP_011516348.1:p.Ala1166Pro
XM_011518047.1:c.3430G>C XP_011516349.1:p.Ala1144Pro
XM_011518048.1:c.3430G>C XP_011516350.1:p.Ala1144Pro
XM_011518049.1:c.1870G>C XP_011516351.1:p.Ala624Pro
XM_011518045.3:c.3334G>C XP_011516347.1:p.Ala1112Pro
XM_011518046.2:c.3496G>C XP_011516348.1:p.Ala1166Pro
XM_011518047.3:c.3430G>C XP_011516349.1:p.Ala1144Pro
XM_011518048.2:c.3430G>C XP_011516350.1:p.Ala1144Pro
XM_011518049.2:c.1870G>C XP_011516351.1:p.Ala624Pro
XM_017015173.1:c.3430G>C XP_016870662.1:p.Ala1144Pro
XM_017015174.1:c.3496G>C XP_016870663.1:p.Ala1166Pro
NM_001190458.2:c.3334G>C NP_001177387.1:p.Ala1112Pro
NM_001193536.2:c.3430G>C NP_001180465.1:p.Ala1144Pro
NM_203447.4:c.3634G>C MANE Select NP_982272.2:p.Ala1212Pro