Canonical Allele Identifier: CA463701300

Gene: DOCK8

Linked Data

• gnomAD v4: 9-452112-C-A
• MyVariant Identifiers: chr9:g.452112C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452112C>A , CM000671.2:g.452112C>A	GRCh38
NC_000009.11:g.452112C>A , CM000671.1:g.452112C>A	GRCh37
NC_000009.10:g.442112C>A	NCBI36
NG_017007.1:g.242248C>A , LRG_196:g.242248C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5763C>A	ENSP00000371766.2:p.Ile1921=
ENST00000683406.1:n.2538C>A
ENST00000684637.1:n.1744C>A
ENST00000685949.1:n.4851C>A
ENST00000432829.7:c.6063C>A MANE Select	ENSP00000394888.3:p.Ile2021=
ENST00000382329.1:c.4464C>A	ENSP00000371766.1:p.Ile1488=
ENST00000432829.6:c.6063C>A	ENSP00000394888.3:p.Ile2021=
ENST00000453981.5:c.5859C>A	ENSP00000408464.2:p.Ile1953=
ENST00000469391.5:c.5763C>A	ENSP00000419438.1:p.Ile1921=
ENST00000495184.5:n.8018C>A
NM_001190458.1:c.5763C>A	NP_001177387.1:p.Ile1921=
NM_001193536.1:c.5859C>A	NP_001180465.1:p.Ile1953=
NM_203447.3:c.6063C>A , LRG_196t1:c.6063C>A	NP_982272.2:p.Ile2021=
XM_011518045.1:c.5763C>A	XP_011516347.1:p.Ile1921=
XM_011518046.1:c.5925C>A	XP_011516348.1:p.Ile1975=
XM_011518047.1:c.5859C>A	XP_011516349.1:p.Ile1953=
XM_011518048.1:c.5859C>A	XP_011516350.1:p.Ile1953=
XM_011518049.1:c.4299C>A	XP_011516351.1:p.Ile1433=
XM_011518045.3:c.5763C>A	XP_011516347.1:p.Ile1921=
XM_011518046.2:c.5925C>A	XP_011516348.1:p.Ile1975=
XM_011518047.3:c.5859C>A	XP_011516349.1:p.Ile1953=
XM_011518048.2:c.5859C>A	XP_011516350.1:p.Ile1953=
XM_011518049.2:c.4299C>A	XP_011516351.1:p.Ile1433=
XM_017015173.1:c.5859C>A	XP_016870662.1:p.Ile1953=
XM_017015174.1:c.5925C>A	XP_016870663.1:p.Ile1975=
NM_001190458.2:c.5763C>A	NP_001177387.1:p.Ile1921=
NM_001193536.2:c.5859C>A	NP_001180465.1:p.Ile1953=
NM_203447.4:c.6063C>A MANE Select	NP_982272.2:p.Ile2021=