Canonical Allele Identifier: CA372769851
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452111T>G , CM000671.2:g.452111T>G GRCh38
NC_000009.11:g.452111T>G , CM000671.1:g.452111T>G GRCh37
NC_000009.10:g.442111T>G NCBI36
NG_017007.1:g.242247T>G , LRG_196:g.242247T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5762T>G ENSP00000371766.2:p.Ile1921Ser
ENST00000683406.1:n.2537T>G
ENST00000684637.1:n.1743T>G
ENST00000685949.1:n.4850T>G
ENST00000432829.7:c.6062T>G MANE Select ENSP00000394888.3:p.Ile2021Ser
ENST00000382329.1:c.4463T>G ENSP00000371766.1:p.Ile1488Ser
ENST00000432829.6:c.6062T>G ENSP00000394888.3:p.Ile2021Ser
ENST00000453981.5:c.5858T>G ENSP00000408464.2:p.Ile1953Ser
ENST00000469391.5:c.5762T>G ENSP00000419438.1:p.Ile1921Ser
ENST00000495184.5:n.8017T>G
NM_001190458.1:c.5762T>G NP_001177387.1:p.Ile1921Ser
NM_001193536.1:c.5858T>G NP_001180465.1:p.Ile1953Ser
NM_203447.3:c.6062T>G , LRG_196t1:c.6062T>G NP_982272.2:p.Ile2021Ser
XM_011518045.1:c.5762T>G XP_011516347.1:p.Ile1921Ser
XM_011518046.1:c.5924T>G XP_011516348.1:p.Ile1975Ser
XM_011518047.1:c.5858T>G XP_011516349.1:p.Ile1953Ser
XM_011518048.1:c.5858T>G XP_011516350.1:p.Ile1953Ser
XM_011518049.1:c.4298T>G XP_011516351.1:p.Ile1433Ser
XM_011518045.3:c.5762T>G XP_011516347.1:p.Ile1921Ser
XM_011518046.2:c.5924T>G XP_011516348.1:p.Ile1975Ser
XM_011518047.3:c.5858T>G XP_011516349.1:p.Ile1953Ser
XM_011518048.2:c.5858T>G XP_011516350.1:p.Ile1953Ser
XM_011518049.2:c.4298T>G XP_011516351.1:p.Ile1433Ser
XM_017015173.1:c.5858T>G XP_016870662.1:p.Ile1953Ser
XM_017015174.1:c.5924T>G XP_016870663.1:p.Ile1975Ser
NM_001190458.2:c.5762T>G NP_001177387.1:p.Ile1921Ser
NM_001193536.2:c.5858T>G NP_001180465.1:p.Ile1953Ser
NM_203447.4:c.6062T>G MANE Select NP_982272.2:p.Ile2021Ser