Canonical Allele Identifier: CA4958349

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.386329A>C , CM000671.2:g.386329A>C	GRCh38
NC_000009.11:g.386329A>C , CM000671.1:g.386329A>C	GRCh37
NC_000009.10:g.376329A>C	NCBI36
NG_017007.1:g.176465A>C , LRG_196:g.176465A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2574+3644A>C	ENSP00000371766.2:n.2574+3644A>C
ENST00000382331.6:n.1276-2A>C
ENST00000682260.1:n.2675-2A>C
ENST00000685949.1:n.1567-2A>C
ENST00000432829.7:c.2779-2A>C MANE Select	ENSP00000394888.3:n.2779-2A>C
ENST00000382329.1:c.1180-2A>C	ENSP00000371766.1:n.1180-2A>C
ENST00000382331.5:c.685-2A>C	ENSP00000371768.1:n.685-2A>C
ENST00000432829.6:c.2779-2A>C	ENSP00000394888.3:n.2779-2A>C
ENST00000453981.5:c.2575-2A>C	ENSP00000408464.2:n.2575-2A>C
ENST00000469391.5:c.2574+3644A>C	ENSP00000419438.1:n.2574+3644A>C
ENST00000495184.5:n.4734-2A>C
NM_001190458.1:c.2574+3644A>C	NP_001177387.1:n.2574+3644A>C
NM_001193536.1:c.2575-2A>C	NP_001180465.1:n.2575-2A>C
NM_203447.3:c.2779-2A>C , LRG_196t1:c.2779-2A>C	NP_982272.2:n.2779-2A>C
XM_011518045.1:c.2574+3644A>C	XP_011516347.1:n.2574+3644A>C
XM_011518046.1:c.2641-2A>C	XP_011516348.1:n.2641-2A>C
XM_011518047.1:c.2575-2A>C	XP_011516349.1:n.2575-2A>C
XM_011518048.1:c.2575-2A>C	XP_011516350.1:n.2575-2A>C
XM_011518049.1:c.1015-2A>C	XP_011516351.1:n.1015-2A>C
XM_011518045.3:c.2574+3644A>C	XP_011516347.1:n.2574+3644A>C
XM_011518046.2:c.2641-2A>C	XP_011516348.1:n.2641-2A>C
XM_011518047.3:c.2575-2A>C	XP_011516349.1:n.2575-2A>C
XM_011518048.2:c.2575-2A>C	XP_011516350.1:n.2575-2A>C
XM_011518049.2:c.1015-2A>C	XP_011516351.1:n.1015-2A>C
XM_017015173.1:c.2575-2A>C	XP_016870662.1:n.2575-2A>C
XM_017015174.1:c.2641-2A>C	XP_016870663.1:n.2641-2A>C
NM_001190458.2:c.2574+3644A>C	NP_001177387.1:n.2574+3644A>C
NM_001193536.2:c.2575-2A>C	NP_001180465.1:n.2575-2A>C
NM_203447.4:c.2779-2A>C MANE Select	NP_982272.2:n.2779-2A>C