Canonical Allele Identifier: CA372767725
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.439297C>A , CM000671.2:g.439297C>A GRCh38
NC_000009.11:g.439297C>A , CM000671.1:g.439297C>A GRCh37
NC_000009.10:g.429297C>A NCBI36
NG_017007.1:g.229433C>A , LRG_196:g.229433C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.4832C>A ENSP00000371766.2:p.Ser1611Ter
ENST00000683406.1:n.1607C>A
ENST00000685949.1:n.3920C>A
ENST00000432829.7:c.5132C>A MANE Select ENSP00000394888.3:p.Ser1711Ter
ENST00000382329.1:c.3533C>A ENSP00000371766.1:p.Ser1178Ter
ENST00000432829.6:c.5132C>A ENSP00000394888.3:p.Ser1711Ter
ENST00000453981.5:c.4928C>A ENSP00000408464.2:p.Ser1643Ter
ENST00000469391.5:c.4832C>A ENSP00000419438.1:p.Ser1611Ter
ENST00000495184.5:n.7087C>A
NM_001190458.1:c.4832C>A NP_001177387.1:p.Ser1611Ter
NM_001193536.1:c.4928C>A NP_001180465.1:p.Ser1643Ter
NM_203447.3:c.5132C>A , LRG_196t1:c.5132C>A NP_982272.2:p.Ser1711Ter
XM_011518045.1:c.4832C>A XP_011516347.1:p.Ser1611Ter
XM_011518046.1:c.4994C>A XP_011516348.1:p.Ser1665Ter
XM_011518047.1:c.4928C>A XP_011516349.1:p.Ser1643Ter
XM_011518048.1:c.4928C>A XP_011516350.1:p.Ser1643Ter
XM_011518049.1:c.3368C>A XP_011516351.1:p.Ser1123Ter
XM_011518045.3:c.4832C>A XP_011516347.1:p.Ser1611Ter
XM_011518046.2:c.4994C>A XP_011516348.1:p.Ser1665Ter
XM_011518047.3:c.4928C>A XP_011516349.1:p.Ser1643Ter
XM_011518048.2:c.4928C>A XP_011516350.1:p.Ser1643Ter
XM_011518049.2:c.3368C>A XP_011516351.1:p.Ser1123Ter
XM_017015173.1:c.4928C>A XP_016870662.1:p.Ser1643Ter
XM_017015174.1:c.4994C>A XP_016870663.1:p.Ser1665Ter
NM_001190458.2:c.4832C>A NP_001177387.1:p.Ser1611Ter
NM_001193536.2:c.4928C>A NP_001180465.1:p.Ser1643Ter
NM_203447.4:c.5132C>A MANE Select NP_982272.2:p.Ser1711Ter