Canonical Allele Identifier: CA463701235

Gene: DOCK8

Linked Data

• dbSNP Id: rs2057482632
• gnomAD v3: 9-452016-A-C
• gnomAD v4: 9-452016-A-C
• MyVariant Identifiers: chr9:g.452016A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452016A>C , CM000671.2:g.452016A>C	GRCh38
NC_000009.11:g.452016A>C , CM000671.1:g.452016A>C	GRCh37
NC_000009.10:g.442016A>C	NCBI36
NG_017007.1:g.242152A>C , LRG_196:g.242152A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5667A>C	ENSP00000371766.2:p.Pro1889=
ENST00000683406.1:n.2442A>C
ENST00000684637.1:n.1648A>C
ENST00000685949.1:n.4755A>C
ENST00000432829.7:c.5967A>C MANE Select	ENSP00000394888.3:p.Pro1989=
ENST00000382329.1:c.4368A>C	ENSP00000371766.1:p.Pro1456=
ENST00000432829.6:c.5967A>C	ENSP00000394888.3:p.Pro1989=
ENST00000453981.5:c.5763A>C	ENSP00000408464.2:p.Pro1921=
ENST00000469391.5:c.5667A>C	ENSP00000419438.1:p.Pro1889=
ENST00000495184.5:n.7922A>C
NM_001190458.1:c.5667A>C	NP_001177387.1:p.Pro1889=
NM_001193536.1:c.5763A>C	NP_001180465.1:p.Pro1921=
NM_203447.3:c.5967A>C , LRG_196t1:c.5967A>C	NP_982272.2:p.Pro1989=
XM_011518045.1:c.5667A>C	XP_011516347.1:p.Pro1889=
XM_011518046.1:c.5829A>C	XP_011516348.1:p.Pro1943=
XM_011518047.1:c.5763A>C	XP_011516349.1:p.Pro1921=
XM_011518048.1:c.5763A>C	XP_011516350.1:p.Pro1921=
XM_011518049.1:c.4203A>C	XP_011516351.1:p.Pro1401=
XM_011518045.3:c.5667A>C	XP_011516347.1:p.Pro1889=
XM_011518046.2:c.5829A>C	XP_011516348.1:p.Pro1943=
XM_011518047.3:c.5763A>C	XP_011516349.1:p.Pro1921=
XM_011518048.2:c.5763A>C	XP_011516350.1:p.Pro1921=
XM_011518049.2:c.4203A>C	XP_011516351.1:p.Pro1401=
XM_017015173.1:c.5763A>C	XP_016870662.1:p.Pro1921=
XM_017015174.1:c.5829A>C	XP_016870663.1:p.Pro1943=
NM_001190458.2:c.5667A>C	NP_001177387.1:p.Pro1889=
NM_001193536.2:c.5763A>C	NP_001180465.1:p.Pro1921=
NM_203447.4:c.5967A>C MANE Select	NP_982272.2:p.Pro1989=