Canonical Allele Identifier: CA463848510
Gene: DOCK8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.377109C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.377109C>T , CM000671.2:g.377109C>T GRCh38
NC_000009.11:g.377109C>T , CM000671.1:g.377109C>T GRCh37
NC_000009.10:g.367109C>T NCBI36
NG_017007.1:g.167245C>T , LRG_196:g.167245C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.2134C>T ENSP00000371766.2:p.Leu712=
ENST00000382331.6:n.835C>T
ENST00000483757.6:c.*1025C>T ENSP00000417691.2:n.*1025C>T
ENST00000682260.1:n.2234C>T
ENST00000685949.1:n.1126C>T
ENST00000432829.7:c.2338C>T MANE Select ENSP00000394888.3:p.Leu780=
ENST00000382329.1:c.739C>T ENSP00000371766.1:p.Leu247=
ENST00000382331.5:c.244C>T ENSP00000371768.1:p.Leu82=
ENST00000432829.6:c.2338C>T ENSP00000394888.3:p.Leu780=
ENST00000453981.5:c.2134C>T ENSP00000408464.2:p.Leu712=
ENST00000469391.5:c.2134C>T ENSP00000419438.1:p.Leu712=
ENST00000483757.5:c.*1813C>T ENSP00000417691.1:n.*1813C>T
ENST00000495184.5:n.4293C>T
NM_001190458.1:c.2134C>T NP_001177387.1:p.Leu712=
NM_001193536.1:c.2134C>T NP_001180465.1:p.Leu712=
NM_203447.3:c.2338C>T , LRG_196t1:c.2338C>T NP_982272.2:p.Leu780=
XM_011518045.1:c.2134C>T XP_011516347.1:p.Leu712=
XM_011518046.1:c.2200C>T XP_011516348.1:p.Leu734=
XM_011518047.1:c.2134C>T XP_011516349.1:p.Leu712=
XM_011518048.1:c.2134C>T XP_011516350.1:p.Leu712=
XM_011518049.1:c.574C>T XP_011516351.1:p.Leu192=
XM_011518045.3:c.2134C>T XP_011516347.1:p.Leu712=
XM_011518046.2:c.2200C>T XP_011516348.1:p.Leu734=
XM_011518047.3:c.2134C>T XP_011516349.1:p.Leu712=
XM_011518048.2:c.2134C>T XP_011516350.1:p.Leu712=
XM_011518049.2:c.574C>T XP_011516351.1:p.Leu192=
XM_017015173.1:c.2134C>T XP_016870662.1:p.Leu712=
XM_017015174.1:c.2200C>T XP_016870663.1:p.Leu734=
NM_001190458.2:c.2134C>T NP_001177387.1:p.Leu712=
NM_001193536.2:c.2134C>T NP_001180465.1:p.Leu712=
NM_203447.4:c.2338C>T MANE Select NP_982272.2:p.Leu780=