Canonical Allele Identifier: CA372752187

Gene: DOCK8

Linked Data

• gnomAD v4: 9-271632-C-A
• MyVariant Identifiers: chr9:g.271632C>A (hg19) ; chr9:g.271632C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.271632C>A , CM000671.2:g.271632C>A	GRCh38
NC_000009.11:g.271632C>A , CM000671.1:g.271632C>A	GRCh37
NC_000009.10:g.261632C>A	NCBI36
NG_017007.1:g.61768C>A , LRG_196:g.61768C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.-146C>A	ENSP00000371766.2:n.-146C>A
ENST00000682121.1:n.166-14829C>A
ENST00000684166.1:n.168C>A
ENST00000684384.1:n.168C>A
ENST00000432829.7:c.59C>A MANE Select	ENSP00000394888.3:p.Ser20Tyr
ENST00000432829.6:c.59C>A	ENSP00000394888.3:p.Ser20Tyr
ENST00000454469.6:n.168C>A
ENST00000469197.5:c.59C>A	ENSP00000418587.1:p.Ser20Tyr
ENST00000479404.5:c.-146C>A	ENSP00000417082.1:n.-146C>A
ENST00000524396.5:c.*22C>A	ENSP00000436628.1:n.*22C>A
NM_203447.3:c.59C>A , LRG_196t1:c.59C>A	NP_982272.2:p.Ser20Tyr
XM_011518045.1:c.-146C>A	XP_011516347.1:n.-146C>A
XM_011518047.1:c.-146C>A	XP_011516349.1:n.-146C>A
XR_929404.1:n.88+1273G>T
XR_929406.1:n.1333+2652G>T
XM_011518045.3:c.-146C>A	XP_011516347.1:n.-146C>A
XM_011518047.3:c.-146C>A	XP_011516349.1:n.-146C>A
XM_017015173.1:c.-146C>A	XP_016870662.1:n.-146C>A
NM_203447.4:c.59C>A MANE Select	NP_982272.2:p.Ser20Tyr