Canonical Allele Identifier: CA8256524

Gene: DEF8

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89957654G>A , CM000678.2:g.89957654G>A	GRCh38
NC_000016.9:g.90024062G>A , CM000678.1:g.90024062G>A	GRCh37
NC_000016.8:g.88551563G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563594.6:c.366G>A MANE Select	ENSP00000458019.1:p.Glu122=
ENST00000268676.11:c.549G>A	ENSP00000268676.7:p.Glu183=
ENST00000418391.6:c.366G>A	ENSP00000412784.2:p.Glu122=
ENST00000561741.5:c.468G>A	ENSP00000457309.1:p.Glu156=
ENST00000561784.5:c.*80G>A	ENSP00000455654.1:n.*80G>A
ENST00000561959.5:c.366G>A	ENSP00000456706.1:p.Glu122=
ENST00000562578.5:c.348G>A	ENSP00000454534.1:p.Glu116=
ENST00000562986.5:c.186G>A	ENSP00000455987.1:p.Glu62=
ENST00000563594.5:c.366G>A	ENSP00000458019.1:p.Glu122=
ENST00000563795.1:c.366G>A	ENSP00000457627.1:p.Glu122=
ENST00000566079.5:c.378G>A	ENSP00000456954.1:p.Glu126=
ENST00000566820.5:c.339G>A	ENSP00000455783.1:p.Glu113=
ENST00000567874.5:c.186G>A	ENSP00000456095.1:p.Glu62=
ENST00000567999.5:c.366G>A	ENSP00000457072.1:p.Glu122=
ENST00000568760.5:n.402G>A
ENST00000569061.5:c.366G>A	ENSP00000454478.1:p.Glu122=
ENST00000569453.5:c.366G>A	ENSP00000456501.1:p.Glu122=
ENST00000569803.5:n.493G>A
ENST00000570182.5:c.336G>A	ENSP00000456799.1:p.Glu112=
ENST00000610455.4:c.366G>A	ENSP00000480073.1:p.Glu122=
ENST00000617948.4:c.366G>A	ENSP00000482524.1:p.Glu122=
NM_001242816.1:c.336G>A	NP_001229745.1:p.Glu112=
NM_001242817.1:c.186G>A	NP_001229746.1:p.Glu62=
NM_001242818.1:c.366G>A	NP_001229747.1:p.Glu122=
NM_001242819.1:c.366G>A	NP_001229748.1:p.Glu122=
NM_001242820.1:c.366G>A	NP_001229749.1:p.Glu122=
NM_001242821.1:c.366G>A	NP_001229750.1:p.Glu122=
NM_001242822.1:c.366G>A	NP_001229751.1:p.Glu122=
NM_017702.3:c.366G>A	NP_060172.1:p.Glu122=
NM_207514.2:c.549G>A	NP_997397.1:p.Glu183=
XM_005256318.2:c.366G>A	XP_005256375.2:p.Glu122=
XM_011523156.1:c.366G>A	XP_011521458.1:p.Glu122=
XM_011523157.1:c.366G>A	XP_011521459.1:p.Glu122=
XM_011523158.1:c.366G>A	XP_011521460.1:p.Glu122=
XM_011523159.1:c.468G>A	XP_011521461.1:p.Glu156=
XM_011523160.1:c.549G>A	XP_011521462.1:p.Glu183=
XM_011523161.1:c.549G>A	XP_011521463.1:p.Glu183=
XM_011523162.1:c.366G>A	XP_011521464.1:p.Glu122=
XM_011523163.1:c.366G>A	XP_011521465.1:p.Glu122=
XM_011523164.1:c.366G>A	XP_011521466.1:p.Glu122=
XM_011523165.1:c.366G>A	XP_011521467.1:p.Glu122=
XM_011523166.1:c.366G>A	XP_011521468.1:p.Glu122=
XM_005256318.3:c.366G>A	XP_005256375.2:p.Glu122=
XM_011523156.3:c.366G>A	XP_011521458.1:p.Glu122=
XM_011523157.3:c.366G>A	XP_011521459.1:p.Glu122=
XM_011523158.2:c.366G>A	XP_011521460.1:p.Glu122=
XM_011523159.3:c.468G>A	XP_011521461.1:p.Glu156=
XM_011523160.3:c.549G>A	XP_011521462.1:p.Glu183=
XM_011523161.3:c.549G>A	XP_011521463.1:p.Glu183=
XM_011523162.3:c.366G>A	XP_011521464.1:p.Glu122=
XM_017023358.2:c.366G>A	XP_016878847.1:p.Glu122=
XM_017023359.2:c.366G>A	XP_016878848.1:p.Glu122=
XM_017023360.2:c.366G>A	XP_016878849.1:p.Glu122=
XM_017023361.2:c.468G>A	XP_016878850.1:p.Glu156=
XM_017023362.2:c.468G>A	XP_016878851.1:p.Glu156=
XM_017023363.1:c.549G>A	XP_016878852.1:p.Glu183=
XM_017023364.2:c.468G>A	XP_016878853.1:p.Glu156=
XM_017023365.1:c.549G>A	XP_016878854.1:p.Glu183=
XM_017023366.2:c.366G>A	XP_016878855.1:p.Glu122=
XM_017023367.2:c.366G>A	XP_016878856.1:p.Glu122=
XM_017023368.2:c.366G>A	XP_016878857.1:p.Glu122=
XM_017023369.2:c.366G>A	XP_016878858.1:p.Glu122=
NM_001242816.2:c.336G>A	NP_001229745.1:p.Glu112=
NM_001242817.2:c.186G>A	NP_001229746.1:p.Glu62=
NM_001242818.2:c.366G>A MANE Select	NP_001229747.1:p.Glu122=
NM_001242822.2:c.366G>A	NP_001229751.1:p.Glu122=
NM_017702.4:c.366G>A	NP_060172.1:p.Glu122=
NM_207514.3:c.549G>A	NP_997397.1:p.Glu183=
NM_001242820.2:c.366G>A	NP_001229749.1:p.Glu122=
NM_001242821.2:c.366G>A	NP_001229750.1:p.Glu122=