Canonical Allele Identifier: CA372762193

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.418124G>A , CM000671.2:g.418124G>A	GRCh38
NC_000009.11:g.418124G>A , CM000671.1:g.418124G>A	GRCh37
NC_000009.10:g.408124G>A	NCBI36
NG_017007.1:g.208260G>A , LRG_196:g.208260G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.3757G>A MANE Select	NP_982272.2:p.Gly1253Ser
ENST00000432829.7:c.3757G>A MANE Select	ENSP00000394888.3:p.Gly1253Ser
NM_001190458.1:c.3457G>A	NP_001177387.1:p.Gly1153Ser
NM_001190458.2:c.3457G>A	NP_001177387.1:p.Gly1153Ser
NM_001193536.1:c.3553G>A	NP_001180465.1:p.Gly1185Ser
NM_001193536.2:c.3553G>A	NP_001180465.1:p.Gly1185Ser
NM_203447.3:c.3757G>A , LRG_196t1:c.3757G>A	NP_982272.2:p.Gly1253Ser
ENST00000382329.1:c.2158G>A	ENSP00000371766.1:p.Gly720Ser
ENST00000382329.2:c.3457G>A	ENSP00000371766.2:p.Gly1153Ser
ENST00000432829.6:c.3757G>A	ENSP00000394888.3:p.Gly1253Ser
ENST00000453981.5:c.3553G>A	ENSP00000408464.2:p.Gly1185Ser
ENST00000469391.5:c.3457G>A	ENSP00000419438.1:p.Gly1153Ser
ENST00000495184.5:n.5712G>A
ENST00000683406.1:n.278G>A
ENST00000685949.1:n.2545G>A
XM_011518045.1:c.3457G>A	XP_011516347.1:p.Gly1153Ser
XM_011518045.3:c.3457G>A	XP_011516347.1:p.Gly1153Ser
XM_011518046.1:c.3619G>A	XP_011516348.1:p.Gly1207Ser
XM_011518046.2:c.3619G>A	XP_011516348.1:p.Gly1207Ser
XM_011518047.1:c.3553G>A	XP_011516349.1:p.Gly1185Ser
XM_011518047.3:c.3553G>A	XP_011516349.1:p.Gly1185Ser
XM_011518048.1:c.3553G>A	XP_011516350.1:p.Gly1185Ser
XM_011518048.2:c.3553G>A	XP_011516350.1:p.Gly1185Ser
XM_011518049.1:c.1993G>A	XP_011516351.1:p.Gly665Ser
XM_011518049.2:c.1993G>A	XP_011516351.1:p.Gly665Ser
XM_017015173.1:c.3553G>A	XP_016870662.1:p.Gly1185Ser
XM_017015174.1:c.3619G>A	XP_016870663.1:p.Gly1207Ser