Canonical Allele Identifier: CA187758006

Gene: DOCK8

Linked Data

• dbSNP Id: rs578093992
• gnomAD v2: 9-271629-A-T
• gnomAD v4: 9-271629-A-T
• MyVariant Identifiers: chr9:g.271629A>T (hg19) ; chr9:g.271629A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.271629A>T , CM000671.2:g.271629A>T	GRCh38
NC_000009.11:g.271629A>T , CM000671.1:g.271629A>T	GRCh37
NC_000009.10:g.261629A>T	NCBI36
NG_017007.1:g.61765A>T , LRG_196:g.61765A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.-149A>T	ENSP00000371766.2:n.-149A>T
ENST00000682121.1:n.166-14832A>T
ENST00000684166.1:n.165A>T
ENST00000684384.1:n.165A>T
ENST00000432829.7:c.56A>T MANE Select	ENSP00000394888.3:p.Tyr19Phe
ENST00000432829.6:c.56A>T	ENSP00000394888.3:p.Tyr19Phe
ENST00000454469.6:n.165A>T
ENST00000469197.5:c.56A>T	ENSP00000418587.1:p.Tyr19Phe
ENST00000479404.5:c.-149A>T	ENSP00000417082.1:n.-149A>T
ENST00000524396.5:c.*19A>T	ENSP00000436628.1:n.*19A>T
NM_203447.3:c.56A>T , LRG_196t1:c.56A>T	NP_982272.2:p.Tyr19Phe
XM_011518045.1:c.-149A>T	XP_011516347.1:n.-149A>T
XM_011518047.1:c.-149A>T	XP_011516349.1:n.-149A>T
XR_929404.1:n.88+1276T>A
XR_929406.1:n.1333+2655T>A
XM_011518045.3:c.-149A>T	XP_011516347.1:n.-149A>T
XM_011518047.3:c.-149A>T	XP_011516349.1:n.-149A>T
XM_017015173.1:c.-149A>T	XP_016870662.1:n.-149A>T
NM_203447.4:c.56A>T MANE Select	NP_982272.2:p.Tyr19Phe