Canonical Allele Identifier: CA372769845

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.452109C>G (hg19) ; chr9:g.452109C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452109C>G , CM000671.2:g.452109C>G	GRCh38
NC_000009.11:g.452109C>G , CM000671.1:g.452109C>G	GRCh37
NC_000009.10:g.442109C>G	NCBI36
NG_017007.1:g.242245C>G , LRG_196:g.242245C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5760C>G	ENSP00000371766.2:p.Phe1920Leu
ENST00000683406.1:n.2535C>G
ENST00000684637.1:n.1741C>G
ENST00000685949.1:n.4848C>G
ENST00000432829.7:c.6060C>G MANE Select	ENSP00000394888.3:p.Phe2020Leu
ENST00000382329.1:c.4461C>G	ENSP00000371766.1:p.Phe1487Leu
ENST00000432829.6:c.6060C>G	ENSP00000394888.3:p.Phe2020Leu
ENST00000453981.5:c.5856C>G	ENSP00000408464.2:p.Phe1952Leu
ENST00000469391.5:c.5760C>G	ENSP00000419438.1:p.Phe1920Leu
ENST00000495184.5:n.8015C>G
NM_001190458.1:c.5760C>G	NP_001177387.1:p.Phe1920Leu
NM_001193536.1:c.5856C>G	NP_001180465.1:p.Phe1952Leu
NM_203447.3:c.6060C>G , LRG_196t1:c.6060C>G	NP_982272.2:p.Phe2020Leu
XM_011518045.1:c.5760C>G	XP_011516347.1:p.Phe1920Leu
XM_011518046.1:c.5922C>G	XP_011516348.1:p.Phe1974Leu
XM_011518047.1:c.5856C>G	XP_011516349.1:p.Phe1952Leu
XM_011518048.1:c.5856C>G	XP_011516350.1:p.Phe1952Leu
XM_011518049.1:c.4296C>G	XP_011516351.1:p.Phe1432Leu
XM_011518045.3:c.5760C>G	XP_011516347.1:p.Phe1920Leu
XM_011518046.2:c.5922C>G	XP_011516348.1:p.Phe1974Leu
XM_011518047.3:c.5856C>G	XP_011516349.1:p.Phe1952Leu
XM_011518048.2:c.5856C>G	XP_011516350.1:p.Phe1952Leu
XM_011518049.2:c.4296C>G	XP_011516351.1:p.Phe1432Leu
XM_017015173.1:c.5856C>G	XP_016870662.1:p.Phe1952Leu
XM_017015174.1:c.5922C>G	XP_016870663.1:p.Phe1974Leu
NM_001190458.2:c.5760C>G	NP_001177387.1:p.Phe1920Leu
NM_001193536.2:c.5856C>G	NP_001180465.1:p.Phe1952Leu
NM_203447.4:c.6060C>G MANE Select	NP_982272.2:p.Phe2020Leu