Canonical Allele Identifier: CA8256849

Gene: DEF8

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89964233G>A , CM000678.2:g.89964233G>A	GRCh38
NC_000016.9:g.90030641G>A , CM000678.1:g.90030641G>A	GRCh37
NC_000016.8:g.88558142G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563594.6:c.1066G>A MANE Select	ENSP00000458019.1:p.Val356Met
ENST00000268676.11:c.1249G>A	ENSP00000268676.7:p.Val417Met
ENST00000561959.5:c.373-233G>A	ENSP00000456706.1:n.373-233G>A
ENST00000562163.5:n.102G>A
ENST00000563594.5:c.1066G>A	ENSP00000458019.1:p.Val356Met
ENST00000563795.1:c.1015G>A	ENSP00000457627.1:p.Val339Met
ENST00000563805.1:n.167G>A
ENST00000564379.1:n.394G>A
ENST00000567874.5:c.886G>A	ENSP00000456095.1:p.Val296Met
ENST00000569453.5:c.1066G>A	ENSP00000456501.1:p.Val356Met
ENST00000570182.5:c.1036G>A	ENSP00000456799.1:p.Val346Met
ENST00000617948.4:c.1066G>A	ENSP00000482524.1:p.Val356Met
NM_001242816.1:c.1036G>A	NP_001229745.1:p.Val346Met
NM_001242817.1:c.886G>A	NP_001229746.1:p.Val296Met
NM_001242818.1:c.1066G>A	NP_001229747.1:p.Val356Met
NM_001242819.1:c.1015G>A	NP_001229748.1:p.Val339Met
NM_001242820.1:c.1066G>A	NP_001229749.1:p.Val356Met
NM_207514.2:c.1249G>A	NP_997397.1:p.Val417Met
XM_005256318.2:c.1015G>A	XP_005256375.2:p.Val339Met
XM_011523158.1:c.1060G>A	XP_011521460.1:p.Val354Met
XM_011523166.1:c.1066G>A	XP_011521468.1:p.Val356Met
XM_005256318.3:c.1015G>A	XP_005256375.2:p.Val339Met
XM_011523158.2:c.1060G>A	XP_011521460.1:p.Val354Met
XM_017023358.2:c.1066G>A	XP_016878847.1:p.Val356Met
XM_017023359.2:c.1060G>A	XP_016878848.1:p.Val354Met
XM_017023360.2:c.1015G>A	XP_016878849.1:p.Val339Met
XM_017023361.2:c.1168G>A	XP_016878850.1:p.Val390Met
XM_017023362.2:c.1162G>A	XP_016878851.1:p.Val388Met
XM_017023363.1:c.1249G>A	XP_016878852.1:p.Val417Met
XM_017023364.2:c.1117G>A	XP_016878853.1:p.Val373Met
XM_017023365.1:c.1198G>A	XP_016878854.1:p.Val400Met
XM_017023367.2:c.1066G>A	XP_016878856.1:p.Val356Met
XM_017023368.2:c.1066G>A	XP_016878857.1:p.Val356Met
XM_017023369.2:c.1015G>A	XP_016878858.1:p.Val339Met
NM_001242816.2:c.1036G>A	NP_001229745.1:p.Val346Met
NM_001242817.2:c.886G>A	NP_001229746.1:p.Val296Met
NM_001242818.2:c.1066G>A MANE Select	NP_001229747.1:p.Val356Met
NM_207514.3:c.1249G>A	NP_997397.1:p.Val417Met
NM_001242820.2:c.1066G>A	NP_001229749.1:p.Val356Met