Canonical Allele Identifier: CA16605834

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 382962
• ClinVar RCV Id: RCV000437977
• dbSNP Id: rs1057521494
• MyVariant Identifiers: chr9:g.289498C>G (hg19) ; chr9:g.289498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.289498C>G , CM000671.2:g.289498C>G	GRCh38
NC_000009.11:g.289498C>G , CM000671.1:g.289498C>G	GRCh37
NC_000009.10:g.279498C>G	NCBI36
NG_017007.1:g.79634C>G , LRG_196:g.79634C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.129-12C>G	ENSP00000371766.2:n.129-12C>G
ENST00000483757.6:c.129-12C>G	ENSP00000417691.2:n.129-12C>G
ENST00000682121.1:n.342-12C>G
ENST00000682249.1:c.129-12C>G	ENSP00000507731.1:n.129-12C>G
ENST00000684166.1:n.442-12C>G
ENST00000684384.1:n.442-12C>G
ENST00000432829.7:c.333-12C>G MANE Select	ENSP00000394888.3:n.333-12C>G
ENST00000382341.5:n.228-12C>G
ENST00000432829.6:c.333-12C>G	ENSP00000394888.3:n.333-12C>G
ENST00000453981.5:c.129-12C>G	ENSP00000408464.2:n.129-12C>G
ENST00000454469.6:n.442-12C>G
ENST00000469391.5:c.129-12C>G	ENSP00000419438.1:n.129-12C>G
ENST00000478380.5:n.212-12C>G
ENST00000479404.5:c.129-12C>G	ENSP00000417082.1:n.129-12C>G
ENST00000483757.5:c.129-12C>G	ENSP00000417691.1:n.129-12C>G
ENST00000487230.5:c.129-12C>G	ENSP00000418318.1:n.129-12C>G
ENST00000495184.5:n.194-12C>G
ENST00000524396.5:c.*296-12C>G	ENSP00000436628.1:n.*296-12C>G
NM_001190458.1:c.129-12C>G	NP_001177387.1:n.129-12C>G
NM_001193536.1:c.129-12C>G	NP_001180465.1:n.129-12C>G
NM_203447.3:c.333-12C>G , LRG_196t1:c.333-12C>G	NP_982272.2:n.333-12C>G
XM_011518045.1:c.129-12C>G	XP_011516347.1:n.129-12C>G
XM_011518046.1:c.195-12C>G	XP_011516348.1:n.195-12C>G
XM_011518047.1:c.129-12C>G	XP_011516349.1:n.129-12C>G
XM_011518048.1:c.129-12C>G	XP_011516350.1:n.129-12C>G
XM_011518045.3:c.129-12C>G	XP_011516347.1:n.129-12C>G
XM_011518046.2:c.195-12C>G	XP_011516348.1:n.195-12C>G
XM_011518047.3:c.129-12C>G	XP_011516349.1:n.129-12C>G
XM_011518048.2:c.129-12C>G	XP_011516350.1:n.129-12C>G
XM_017015173.1:c.129-12C>G	XP_016870662.1:n.129-12C>G
XM_017015174.1:c.195-12C>G	XP_016870663.1:n.195-12C>G
NM_001190458.2:c.129-12C>G	NP_001177387.1:n.129-12C>G
NM_001193536.2:c.129-12C>G	NP_001180465.1:n.129-12C>G
NM_203447.4:c.333-12C>G MANE Select	NP_982272.2:n.333-12C>G