Canonical Allele Identifier: CA463701294

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.452097C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452097C>T , CM000671.2:g.452097C>T	GRCh38
NC_000009.11:g.452097C>T , CM000671.1:g.452097C>T	GRCh37
NC_000009.10:g.442097C>T	NCBI36
NG_017007.1:g.242233C>T , LRG_196:g.242233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5748C>T	ENSP00000371766.2:p.Cys1916=
ENST00000683406.1:n.2523C>T
ENST00000684637.1:n.1729C>T
ENST00000685949.1:n.4836C>T
ENST00000432829.7:c.6048C>T MANE Select	ENSP00000394888.3:p.Cys2016=
ENST00000382329.1:c.4449C>T	ENSP00000371766.1:p.Cys1483=
ENST00000432829.6:c.6048C>T	ENSP00000394888.3:p.Cys2016=
ENST00000453981.5:c.5844C>T	ENSP00000408464.2:p.Cys1948=
ENST00000469391.5:c.5748C>T	ENSP00000419438.1:p.Cys1916=
ENST00000495184.5:n.8003C>T
NM_001190458.1:c.5748C>T	NP_001177387.1:p.Cys1916=
NM_001193536.1:c.5844C>T	NP_001180465.1:p.Cys1948=
NM_203447.3:c.6048C>T , LRG_196t1:c.6048C>T	NP_982272.2:p.Cys2016=
XM_011518045.1:c.5748C>T	XP_011516347.1:p.Cys1916=
XM_011518046.1:c.5910C>T	XP_011516348.1:p.Cys1970=
XM_011518047.1:c.5844C>T	XP_011516349.1:p.Cys1948=
XM_011518048.1:c.5844C>T	XP_011516350.1:p.Cys1948=
XM_011518049.1:c.4284C>T	XP_011516351.1:p.Cys1428=
XM_011518045.3:c.5748C>T	XP_011516347.1:p.Cys1916=
XM_011518046.2:c.5910C>T	XP_011516348.1:p.Cys1970=
XM_011518047.3:c.5844C>T	XP_011516349.1:p.Cys1948=
XM_011518048.2:c.5844C>T	XP_011516350.1:p.Cys1948=
XM_011518049.2:c.4284C>T	XP_011516351.1:p.Cys1428=
XM_017015173.1:c.5844C>T	XP_016870662.1:p.Cys1948=
XM_017015174.1:c.5910C>T	XP_016870663.1:p.Cys1970=
NM_001190458.2:c.5748C>T	NP_001177387.1:p.Cys1916=
NM_001193536.2:c.5844C>T	NP_001180465.1:p.Cys1948=
NM_203447.4:c.6048C>T MANE Select	NP_982272.2:p.Cys2016=