Canonical Allele Identifier: CA4958048

Gene: DOCK8

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.372194A>T , CM000671.2:g.372194A>T	GRCh38
NC_000009.11:g.372194A>T , CM000671.1:g.372194A>T	GRCh37
NC_000009.10:g.362194A>T	NCBI36
NG_017007.1:g.162330A>T , LRG_196:g.162330A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.1813A>T	ENSP00000371766.2:p.Ile605Phe
ENST00000382331.6:n.514A>T
ENST00000483757.6:c.*704A>T	ENSP00000417691.2:n.*704A>T
ENST00000682260.1:n.1913A>T
ENST00000685949.1:n.805A>T
ENST00000432829.7:c.2017A>T MANE Select	ENSP00000394888.3:p.Ile673Phe
ENST00000382329.1:c.418A>T	ENSP00000371766.1:p.Ile140Phe
ENST00000382331.5:c.-78A>T	ENSP00000371768.1:n.-78A>T
ENST00000432829.6:c.2017A>T	ENSP00000394888.3:p.Ile673Phe
ENST00000453981.5:c.1813A>T	ENSP00000408464.2:p.Ile605Phe
ENST00000469391.5:c.1813A>T	ENSP00000419438.1:p.Ile605Phe
ENST00000483757.5:c.*1492A>T	ENSP00000417691.1:n.*1492A>T
ENST00000495184.5:n.3972A>T
NM_001190458.1:c.1813A>T	NP_001177387.1:p.Ile605Phe
NM_001193536.1:c.1813A>T	NP_001180465.1:p.Ile605Phe
NM_203447.3:c.2017A>T , LRG_196t1:c.2017A>T	NP_982272.2:p.Ile673Phe
XM_011518045.1:c.1813A>T	XP_011516347.1:p.Ile605Phe
XM_011518046.1:c.1879A>T	XP_011516348.1:p.Ile627Phe
XM_011518047.1:c.1813A>T	XP_011516349.1:p.Ile605Phe
XM_011518048.1:c.1813A>T	XP_011516350.1:p.Ile605Phe
XM_011518049.1:c.253A>T	XP_011516351.1:p.Ile85Phe
XM_011518045.3:c.1813A>T	XP_011516347.1:p.Ile605Phe
XM_011518046.2:c.1879A>T	XP_011516348.1:p.Ile627Phe
XM_011518047.3:c.1813A>T	XP_011516349.1:p.Ile605Phe
XM_011518048.2:c.1813A>T	XP_011516350.1:p.Ile605Phe
XM_011518049.2:c.253A>T	XP_011516351.1:p.Ile85Phe
XM_017015173.1:c.1813A>T	XP_016870662.1:p.Ile605Phe
XM_017015174.1:c.1879A>T	XP_016870663.1:p.Ile627Phe
NM_001190458.2:c.1813A>T	NP_001177387.1:p.Ile605Phe
NM_001193536.2:c.1813A>T	NP_001180465.1:p.Ile605Phe
NM_203447.4:c.2017A>T MANE Select	NP_982272.2:p.Ile673Phe