Canonical Allele Identifier: CA4957100
Gene: DOCK8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265359
dbSNP Id: rs192864327

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.271626G>T , CM000671.2:g.271626G>T GRCh38
NC_000009.11:g.271626G>T , CM000671.1:g.271626G>T GRCh37
NC_000009.10:g.261626G>T NCBI36
NG_017007.1:g.61762G>T , LRG_196:g.61762G>T

Transcript Alleles

HGVS Amino-acid change
NM_203447.3:c.54-1G>T , LRG_196t1:c.54-1G>T NP_982272.2:p.=
XM_011518047.1:c.-151-1G>T XP_011516349.1:p.=
XR_929404.1:n.88+1279C>A
XR_929406.1:n.1333+2658C>A
XM_011518045.3:c.-151-1G>T XP_011516347.1:p.=
XM_011518047.3:c.-151-1G>T XP_011516349.1:p.=
XM_017015173.1:c.-151-1G>T XP_016870662.1:p.=
ENST00000432829.6:c.54-1G>T ENSP00000394888.3:p.=
ENST00000454469.6:n.163-1G>T
ENST00000469197.5:c.54-1G>T ENSP00000418587.1:p.=
ENST00000479404.5:c.-151-1G>T ENSP00000417082.1:p.=
ENST00000524396.5:c.*17-1G>T ENSP00000436628.1:p.=