Canonical Allele Identifier: CA372760819

Gene: DOCK8

Linked Data

• gnomAD v4: 9-414889-C-T
• MyVariant Identifiers: chr9:g.414889C>T (hg19) ; chr9:g.414889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414889C>T , CM000671.2:g.414889C>T	GRCh38
NC_000009.11:g.414889C>T , CM000671.1:g.414889C>T	GRCh37
NC_000009.10:g.404889C>T	NCBI36
NG_017007.1:g.205025C>T , LRG_196:g.205025C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3338C>T	ENSP00000371766.2:p.Ala1113Val
ENST00000683406.1:n.159C>T
ENST00000685949.1:n.2426C>T
ENST00000432829.7:c.3638C>T MANE Select	ENSP00000394888.3:p.Ala1213Val
ENST00000382329.1:c.2039C>T	ENSP00000371766.1:p.Ala680Val
ENST00000432829.6:c.3638C>T	ENSP00000394888.3:p.Ala1213Val
ENST00000453981.5:c.3434C>T	ENSP00000408464.2:p.Ala1145Val
ENST00000469391.5:c.3338C>T	ENSP00000419438.1:p.Ala1113Val
ENST00000495184.5:n.5593C>T
NM_001190458.1:c.3338C>T	NP_001177387.1:p.Ala1113Val
NM_001193536.1:c.3434C>T	NP_001180465.1:p.Ala1145Val
NM_203447.3:c.3638C>T , LRG_196t1:c.3638C>T	NP_982272.2:p.Ala1213Val
XM_011518045.1:c.3338C>T	XP_011516347.1:p.Ala1113Val
XM_011518046.1:c.3500C>T	XP_011516348.1:p.Ala1167Val
XM_011518047.1:c.3434C>T	XP_011516349.1:p.Ala1145Val
XM_011518048.1:c.3434C>T	XP_011516350.1:p.Ala1145Val
XM_011518049.1:c.1874C>T	XP_011516351.1:p.Ala625Val
XM_011518045.3:c.3338C>T	XP_011516347.1:p.Ala1113Val
XM_011518046.2:c.3500C>T	XP_011516348.1:p.Ala1167Val
XM_011518047.3:c.3434C>T	XP_011516349.1:p.Ala1145Val
XM_011518048.2:c.3434C>T	XP_011516350.1:p.Ala1145Val
XM_011518049.2:c.1874C>T	XP_011516351.1:p.Ala625Val
XM_017015173.1:c.3434C>T	XP_016870662.1:p.Ala1145Val
XM_017015174.1:c.3500C>T	XP_016870663.1:p.Ala1167Val
NM_001190458.2:c.3338C>T	NP_001177387.1:p.Ala1113Val
NM_001193536.2:c.3434C>T	NP_001180465.1:p.Ala1145Val
NM_203447.4:c.3638C>T MANE Select	NP_982272.2:p.Ala1213Val