Canonical Allele Identifier: CA463701295
Gene: DOCK8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.452100T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.452100T>C , CM000671.2:g.452100T>C GRCh38
NC_000009.11:g.452100T>C , CM000671.1:g.452100T>C GRCh37
NC_000009.10:g.442100T>C NCBI36
NG_017007.1:g.242236T>C , LRG_196:g.242236T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.5751T>C ENSP00000371766.2:p.Phe1917=
ENST00000683406.1:n.2526T>C
ENST00000684637.1:n.1732T>C
ENST00000685949.1:n.4839T>C
ENST00000432829.7:c.6051T>C MANE Select ENSP00000394888.3:p.Phe2017=
ENST00000382329.1:c.4452T>C ENSP00000371766.1:p.Phe1484=
ENST00000432829.6:c.6051T>C ENSP00000394888.3:p.Phe2017=
ENST00000453981.5:c.5847T>C ENSP00000408464.2:p.Phe1949=
ENST00000469391.5:c.5751T>C ENSP00000419438.1:p.Phe1917=
ENST00000495184.5:n.8006T>C
NM_001190458.1:c.5751T>C NP_001177387.1:p.Phe1917=
NM_001193536.1:c.5847T>C NP_001180465.1:p.Phe1949=
NM_203447.3:c.6051T>C , LRG_196t1:c.6051T>C NP_982272.2:p.Phe2017=
XM_011518045.1:c.5751T>C XP_011516347.1:p.Phe1917=
XM_011518046.1:c.5913T>C XP_011516348.1:p.Phe1971=
XM_011518047.1:c.5847T>C XP_011516349.1:p.Phe1949=
XM_011518048.1:c.5847T>C XP_011516350.1:p.Phe1949=
XM_011518049.1:c.4287T>C XP_011516351.1:p.Phe1429=
XM_011518045.3:c.5751T>C XP_011516347.1:p.Phe1917=
XM_011518046.2:c.5913T>C XP_011516348.1:p.Phe1971=
XM_011518047.3:c.5847T>C XP_011516349.1:p.Phe1949=
XM_011518048.2:c.5847T>C XP_011516350.1:p.Phe1949=
XM_011518049.2:c.4287T>C XP_011516351.1:p.Phe1429=
XM_017015173.1:c.5847T>C XP_016870662.1:p.Phe1949=
XM_017015174.1:c.5913T>C XP_016870663.1:p.Phe1971=
NM_001190458.2:c.5751T>C NP_001177387.1:p.Phe1917=
NM_001193536.2:c.5847T>C NP_001180465.1:p.Phe1949=
NM_203447.4:c.6051T>C MANE Select NP_982272.2:p.Phe2017=