Canonical Allele Identifier: CA1826807543

Gene: DOCK8

Linked Data

• dbSNP Id: rs2048165591
• gnomAD v4: 9-271545-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.271545C>G , CM000671.2:g.271545C>G	GRCh38
NC_000009.11:g.271545C>G , CM000671.1:g.271545C>G	GRCh37
NC_000009.10:g.261545C>G	NCBI36
NG_017007.1:g.61681C>G , LRG_196:g.61681C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.-151-82C>G	ENSP00000371766.2:n.-151-82C>G
ENST00000682121.1:n.166-14916C>G
ENST00000684166.1:n.163-82C>G
ENST00000684384.1:n.163-82C>G
ENST00000432829.7:c.54-82C>G MANE Select	ENSP00000394888.3:n.54-82C>G
ENST00000432829.6:c.54-82C>G	ENSP00000394888.3:n.54-82C>G
ENST00000454469.6:n.163-82C>G
ENST00000469197.5:c.54-82C>G	ENSP00000418587.1:n.54-82C>G
ENST00000479404.5:c.-151-82C>G	ENSP00000417082.1:n.-151-82C>G
ENST00000524396.5:c.*17-82C>G	ENSP00000436628.1:n.*17-82C>G
NM_203447.3:c.54-82C>G , LRG_196t1:c.54-82C>G	NP_982272.2:n.54-82C>G
XM_011518047.1:c.-151-82C>G	XP_011516349.1:n.-151-82C>G
XR_929404.1:n.88+1360G>C
XR_929406.1:n.1333+2739G>C
XM_011518045.3:c.-151-82C>G	XP_011516347.1:n.-151-82C>G
XM_011518047.3:c.-151-82C>G	XP_011516349.1:n.-151-82C>G
XM_017015173.1:c.-151-82C>G	XP_016870662.1:n.-151-82C>G
NM_203447.4:c.54-82C>G MANE Select	NP_982272.2:n.54-82C>G