Canonical Allele Identifier: CA372752195

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.271634T>G (hg19) ; chr9:g.271634T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.271634T>G , CM000671.2:g.271634T>G	GRCh38
NC_000009.11:g.271634T>G , CM000671.1:g.271634T>G	GRCh37
NC_000009.10:g.261634T>G	NCBI36
NG_017007.1:g.61770T>G , LRG_196:g.61770T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.-144T>G	ENSP00000371766.2:n.-144T>G
ENST00000682121.1:n.166-14827T>G
ENST00000684166.1:n.170T>G
ENST00000684384.1:n.170T>G
ENST00000432829.7:c.61T>G MANE Select	ENSP00000394888.3:p.Ser21Ala
ENST00000432829.6:c.61T>G	ENSP00000394888.3:p.Ser21Ala
ENST00000454469.6:n.170T>G
ENST00000469197.5:c.61T>G	ENSP00000418587.1:p.Ser21Ala
ENST00000479404.5:c.-144T>G	ENSP00000417082.1:n.-144T>G
ENST00000524396.5:c.*24T>G	ENSP00000436628.1:n.*24T>G
NM_203447.3:c.61T>G , LRG_196t1:c.61T>G	NP_982272.2:p.Ser21Ala
XM_011518045.1:c.-144T>G	XP_011516347.1:n.-144T>G
XM_011518047.1:c.-144T>G	XP_011516349.1:n.-144T>G
XR_929404.1:n.88+1271A>C
XR_929406.1:n.1333+2650A>C
XM_011518045.3:c.-144T>G	XP_011516347.1:n.-144T>G
XM_011518047.3:c.-144T>G	XP_011516349.1:n.-144T>G
XM_017015173.1:c.-144T>G	XP_016870662.1:n.-144T>G
NM_203447.4:c.61T>G MANE Select	NP_982272.2:p.Ser21Ala