Canonical Allele Identifier: CA463677880

Gene: DOCK8

Linked Data

• dbSNP Id: rs1401417239
• gnomAD v2: 9-271636-A-C
• MyVariant Identifiers: chr9:g.271636A>C (hg19) ; chr9:g.271636A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.271636A>C , CM000671.2:g.271636A>C	GRCh38
NC_000009.11:g.271636A>C , CM000671.1:g.271636A>C	GRCh37
NC_000009.10:g.261636A>C	NCBI36
NG_017007.1:g.61772A>C , LRG_196:g.61772A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.-142A>C	ENSP00000371766.2:n.-142A>C
ENST00000682121.1:n.166-14825A>C
ENST00000684166.1:n.172A>C
ENST00000684384.1:n.172A>C
ENST00000432829.7:c.63A>C MANE Select	ENSP00000394888.3:p.Ser21=
ENST00000432829.6:c.63A>C	ENSP00000394888.3:p.Ser21=
ENST00000454469.6:n.172A>C
ENST00000469197.5:c.63A>C	ENSP00000418587.1:p.Ser21=
ENST00000479404.5:c.-142A>C	ENSP00000417082.1:n.-142A>C
ENST00000524396.5:c.*26A>C	ENSP00000436628.1:n.*26A>C
NM_203447.3:c.63A>C , LRG_196t1:c.63A>C	NP_982272.2:p.Ser21=
XM_011518045.1:c.-142A>C	XP_011516347.1:n.-142A>C
XM_011518047.1:c.-142A>C	XP_011516349.1:n.-142A>C
XR_929404.1:n.88+1269T>G
XR_929406.1:n.1333+2648T>G
XM_011518045.3:c.-142A>C	XP_011516347.1:n.-142A>C
XM_011518047.3:c.-142A>C	XP_011516349.1:n.-142A>C
XM_017015173.1:c.-142A>C	XP_016870662.1:n.-142A>C
NM_203447.4:c.63A>C MANE Select	NP_982272.2:p.Ser21=