Canonical Allele Identifier: CA4957954

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.370249G>A , CM000671.2:g.370249G>A	GRCh38
NC_000009.11:g.370249G>A , CM000671.1:g.370249G>A	GRCh37
NC_000009.10:g.360249G>A	NCBI36
NG_017007.1:g.160385G>A , LRG_196:g.160385G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.1817G>A MANE Select	NP_982272.2:p.Ser606Asn
ENST00000432829.7:c.1817G>A MANE Select	ENSP00000394888.3:p.Ser606Asn
NM_001190458.1:c.1613G>A	NP_001177387.1:p.Ser538Asn
NM_001190458.2:c.1613G>A	NP_001177387.1:p.Ser538Asn
NM_001193536.1:c.1613G>A	NP_001180465.1:p.Ser538Asn
NM_001193536.2:c.1613G>A	NP_001180465.1:p.Ser538Asn
NM_203447.3:c.1817G>A , LRG_196t1:c.1817G>A	NP_982272.2:p.Ser606Asn
ENST00000382329.1:c.218G>A	ENSP00000371766.1:p.Ser73Asn
ENST00000382329.2:c.1613G>A	ENSP00000371766.2:p.Ser538Asn
ENST00000382331.5:c.-139G>A	ENSP00000371768.1:n.-139G>A
ENST00000382331.6:n.453G>A
ENST00000432829.6:c.1817G>A	ENSP00000394888.3:p.Ser606Asn
ENST00000453981.5:c.1613G>A	ENSP00000408464.2:p.Ser538Asn
ENST00000469391.5:c.1613G>A	ENSP00000419438.1:p.Ser538Asn
ENST00000483757.5:c.*1292G>A	ENSP00000417691.1:n.*1292G>A
ENST00000483757.6:c.*504G>A	ENSP00000417691.2:n.*504G>A
ENST00000495184.5:n.3772G>A
ENST00000682260.1:n.586G>A
ENST00000685949.1:n.605G>A
XM_011518045.1:c.1613G>A	XP_011516347.1:p.Ser538Asn
XM_011518045.3:c.1613G>A	XP_011516347.1:p.Ser538Asn
XM_011518046.1:c.1679G>A	XP_011516348.1:p.Ser560Asn
XM_011518046.2:c.1679G>A	XP_011516348.1:p.Ser560Asn
XM_011518047.1:c.1613G>A	XP_011516349.1:p.Ser538Asn
XM_011518047.3:c.1613G>A	XP_011516349.1:p.Ser538Asn
XM_011518048.1:c.1613G>A	XP_011516350.1:p.Ser538Asn
XM_011518048.2:c.1613G>A	XP_011516350.1:p.Ser538Asn
XM_011518049.1:c.53G>A	XP_011516351.1:p.Ser18Asn
XM_011518049.2:c.53G>A	XP_011516351.1:p.Ser18Asn
XM_017015173.1:c.1613G>A	XP_016870662.1:p.Ser538Asn
XM_017015174.1:c.1679G>A	XP_016870663.1:p.Ser560Asn