Canonical Allele Identifier: CA372769727

Gene: DOCK8

Linked Data

• gnomAD v4: 9-452059-C-A
• MyVariant Identifiers: chr9:g.452059C>A (hg19) ; chr9:g.452059C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452059C>A , CM000671.2:g.452059C>A	GRCh38
NC_000009.11:g.452059C>A , CM000671.1:g.452059C>A	GRCh37
NC_000009.10:g.442059C>A	NCBI36
NG_017007.1:g.242195C>A , LRG_196:g.242195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5710C>A	ENSP00000371766.2:p.Pro1904Thr
ENST00000683406.1:n.2485C>A
ENST00000684637.1:n.1691C>A
ENST00000685949.1:n.4798C>A
ENST00000432829.7:c.6010C>A MANE Select	ENSP00000394888.3:p.Pro2004Thr
ENST00000382329.1:c.4411C>A	ENSP00000371766.1:p.Pro1471Thr
ENST00000432829.6:c.6010C>A	ENSP00000394888.3:p.Pro2004Thr
ENST00000453981.5:c.5806C>A	ENSP00000408464.2:p.Pro1936Thr
ENST00000469391.5:c.5710C>A	ENSP00000419438.1:p.Pro1904Thr
ENST00000495184.5:n.7965C>A
NM_001190458.1:c.5710C>A	NP_001177387.1:p.Pro1904Thr
NM_001193536.1:c.5806C>A	NP_001180465.1:p.Pro1936Thr
NM_203447.3:c.6010C>A , LRG_196t1:c.6010C>A	NP_982272.2:p.Pro2004Thr
XM_011518045.1:c.5710C>A	XP_011516347.1:p.Pro1904Thr
XM_011518046.1:c.5872C>A	XP_011516348.1:p.Pro1958Thr
XM_011518047.1:c.5806C>A	XP_011516349.1:p.Pro1936Thr
XM_011518048.1:c.5806C>A	XP_011516350.1:p.Pro1936Thr
XM_011518049.1:c.4246C>A	XP_011516351.1:p.Pro1416Thr
XM_011518045.3:c.5710C>A	XP_011516347.1:p.Pro1904Thr
XM_011518046.2:c.5872C>A	XP_011516348.1:p.Pro1958Thr
XM_011518047.3:c.5806C>A	XP_011516349.1:p.Pro1936Thr
XM_011518048.2:c.5806C>A	XP_011516350.1:p.Pro1936Thr
XM_011518049.2:c.4246C>A	XP_011516351.1:p.Pro1416Thr
XM_017015173.1:c.5806C>A	XP_016870662.1:p.Pro1936Thr
XM_017015174.1:c.5872C>A	XP_016870663.1:p.Pro1958Thr
NM_001190458.2:c.5710C>A	NP_001177387.1:p.Pro1904Thr
NM_001193536.2:c.5806C>A	NP_001180465.1:p.Pro1936Thr
NM_203447.4:c.6010C>A MANE Select	NP_982272.2:p.Pro2004Thr