Canonical Allele Identifier: CA372762005

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.418084A>C (hg19) ; chr9:g.418084A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.418084A>C , CM000671.2:g.418084A>C	GRCh38
NC_000009.11:g.418084A>C , CM000671.1:g.418084A>C	GRCh37
NC_000009.10:g.408084A>C	NCBI36
NG_017007.1:g.208220A>C , LRG_196:g.208220A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.3417A>C	ENSP00000371766.2:p.Arg1139Ser
ENST00000683406.1:n.238A>C
ENST00000685949.1:n.2505A>C
ENST00000432829.7:c.3717A>C MANE Select	ENSP00000394888.3:p.Arg1239Ser
ENST00000382329.1:c.2118A>C	ENSP00000371766.1:p.Arg706Ser
ENST00000432829.6:c.3717A>C	ENSP00000394888.3:p.Arg1239Ser
ENST00000453981.5:c.3513A>C	ENSP00000408464.2:p.Arg1171Ser
ENST00000469391.5:c.3417A>C	ENSP00000419438.1:p.Arg1139Ser
ENST00000495184.5:n.5672A>C
NM_001190458.1:c.3417A>C	NP_001177387.1:p.Arg1139Ser
NM_001193536.1:c.3513A>C	NP_001180465.1:p.Arg1171Ser
NM_203447.3:c.3717A>C , LRG_196t1:c.3717A>C	NP_982272.2:p.Arg1239Ser
XM_011518045.1:c.3417A>C	XP_011516347.1:p.Arg1139Ser
XM_011518046.1:c.3579A>C	XP_011516348.1:p.Arg1193Ser
XM_011518047.1:c.3513A>C	XP_011516349.1:p.Arg1171Ser
XM_011518048.1:c.3513A>C	XP_011516350.1:p.Arg1171Ser
XM_011518049.1:c.1953A>C	XP_011516351.1:p.Arg651Ser
XM_011518045.3:c.3417A>C	XP_011516347.1:p.Arg1139Ser
XM_011518046.2:c.3579A>C	XP_011516348.1:p.Arg1193Ser
XM_011518047.3:c.3513A>C	XP_011516349.1:p.Arg1171Ser
XM_011518048.2:c.3513A>C	XP_011516350.1:p.Arg1171Ser
XM_011518049.2:c.1953A>C	XP_011516351.1:p.Arg651Ser
XM_017015173.1:c.3513A>C	XP_016870662.1:p.Arg1171Ser
XM_017015174.1:c.3579A>C	XP_016870663.1:p.Arg1193Ser
NM_001190458.2:c.3417A>C	NP_001177387.1:p.Arg1139Ser
NM_001193536.2:c.3513A>C	NP_001180465.1:p.Arg1171Ser
NM_203447.4:c.3717A>C MANE Select	NP_982272.2:p.Arg1239Ser