Canonical Allele Identifier: CA463701247

Gene: DOCK8

Linked Data

• gnomAD v4: 9-452028-C-A
• MyVariant Identifiers: chr9:g.452028C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452028C>A , CM000671.2:g.452028C>A	GRCh38
NC_000009.11:g.452028C>A , CM000671.1:g.452028C>A	GRCh37
NC_000009.10:g.442028C>A	NCBI36
NG_017007.1:g.242164C>A , LRG_196:g.242164C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5679C>A	ENSP00000371766.2:p.Ala1893=
ENST00000683406.1:n.2454C>A
ENST00000684637.1:n.1660C>A
ENST00000685949.1:n.4767C>A
ENST00000432829.7:c.5979C>A MANE Select	ENSP00000394888.3:p.Ala1993=
ENST00000382329.1:c.4380C>A	ENSP00000371766.1:p.Ala1460=
ENST00000432829.6:c.5979C>A	ENSP00000394888.3:p.Ala1993=
ENST00000453981.5:c.5775C>A	ENSP00000408464.2:p.Ala1925=
ENST00000469391.5:c.5679C>A	ENSP00000419438.1:p.Ala1893=
ENST00000495184.5:n.7934C>A
NM_001190458.1:c.5679C>A	NP_001177387.1:p.Ala1893=
NM_001193536.1:c.5775C>A	NP_001180465.1:p.Ala1925=
NM_203447.3:c.5979C>A , LRG_196t1:c.5979C>A	NP_982272.2:p.Ala1993=
XM_011518045.1:c.5679C>A	XP_011516347.1:p.Ala1893=
XM_011518046.1:c.5841C>A	XP_011516348.1:p.Ala1947=
XM_011518047.1:c.5775C>A	XP_011516349.1:p.Ala1925=
XM_011518048.1:c.5775C>A	XP_011516350.1:p.Ala1925=
XM_011518049.1:c.4215C>A	XP_011516351.1:p.Ala1405=
XM_011518045.3:c.5679C>A	XP_011516347.1:p.Ala1893=
XM_011518046.2:c.5841C>A	XP_011516348.1:p.Ala1947=
XM_011518047.3:c.5775C>A	XP_011516349.1:p.Ala1925=
XM_011518048.2:c.5775C>A	XP_011516350.1:p.Ala1925=
XM_011518049.2:c.4215C>A	XP_011516351.1:p.Ala1405=
XM_017015173.1:c.5775C>A	XP_016870662.1:p.Ala1925=
XM_017015174.1:c.5841C>A	XP_016870663.1:p.Ala1947=
NM_001190458.2:c.5679C>A	NP_001177387.1:p.Ala1893=
NM_001193536.2:c.5775C>A	NP_001180465.1:p.Ala1925=
NM_203447.4:c.5979C>A MANE Select	NP_982272.2:p.Ala1993=