Canonical Allele Identifier: CA372752205
Gene: DOCK8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.271637G>T , CM000671.2:g.271637G>T GRCh38
NC_000009.11:g.271637G>T , CM000671.1:g.271637G>T GRCh37
NC_000009.10:g.261637G>T NCBI36
NG_017007.1:g.61773G>T , LRG_196:g.61773G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.-141G>T ENSP00000371766.2:n.-141G>T
ENST00000682121.1:n.166-14824G>T
ENST00000684166.1:n.173G>T
ENST00000684384.1:n.173G>T
ENST00000432829.7:c.64G>T MANE Select ENSP00000394888.3:p.Ala22Ser
ENST00000432829.6:c.64G>T ENSP00000394888.3:p.Ala22Ser
ENST00000454469.6:n.173G>T
ENST00000469197.5:c.64G>T ENSP00000418587.1:p.Ala22Ser
ENST00000479404.5:c.-141G>T ENSP00000417082.1:n.-141G>T
ENST00000524396.5:c.*27G>T ENSP00000436628.1:n.*27G>T
NM_203447.3:c.64G>T , LRG_196t1:c.64G>T NP_982272.2:p.Ala22Ser
XM_011518045.1:c.-141G>T XP_011516347.1:n.-141G>T
XM_011518047.1:c.-141G>T XP_011516349.1:n.-141G>T
XR_929404.1:n.88+1268C>A
XR_929406.1:n.1333+2647C>A
XM_011518045.3:c.-141G>T XP_011516347.1:n.-141G>T
XM_011518047.3:c.-141G>T XP_011516349.1:n.-141G>T
XM_017015173.1:c.-141G>T XP_016870662.1:n.-141G>T
NM_203447.4:c.64G>T MANE Select NP_982272.2:p.Ala22Ser