Canonical Allele Identifier: CA343863476

Gene: EDEM3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.184721300T>A , CM000663.2:g.184721300T>A	GRCh38
NC_000001.10:g.184690434T>A , CM000663.1:g.184690434T>A	GRCh37
NC_000001.9:g.182957057T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_025191.4:c.940A>T MANE Select	NP_079467.3:p.Arg314Ter
ENST00000318130.13:c.940A>T MANE Select	ENSP00000318147.7:p.Arg314Ter
NM_001319960.1:c.940A>T	NP_001306889.1:p.Arg314Ter
NM_001319960.2:c.940A>T	NP_001306889.1:p.Arg314Ter
NM_025191.3:c.940A>T	NP_079467.3:p.Arg314Ter
NR_135118.1:n.1201A>T
NR_135118.2:n.1152A>T
ENST00000318130.12:c.940A>T	ENSP00000318147.7:p.Arg314Ter
ENST00000367512.7:c.811A>T	ENSP00000356482.3:p.Arg271Ter
ENST00000367512.8:c.940A>T	ENSP00000356482.4:p.Arg314Ter
ENST00000474725.5:n.1121A>T
ENST00000685249.1:c.940A>T	ENSP00000508618.1:p.Arg314Ter
ENST00000685596.1:c.811A>T	ENSP00000510056.1:p.Arg271Ter
ENST00000686047.1:c.709A>T	ENSP00000508800.1:p.Arg237Ter
ENST00000686225.1:c.1015A>T	ENSP00000509786.1:p.Arg339Ter
ENST00000687113.1:c.709A>T	ENSP00000509571.1:p.Arg237Ter
ENST00000687397.1:n.483A>T
ENST00000689766.1:n.1144A>T
ENST00000689946.1:n.1161A>T
ENST00000690028.1:n.1831A>T
ENST00000692170.1:c.709A>T	ENSP00000508652.1:p.Arg237Ter
XM_005245499.1:c.940A>T	XP_005245556.1:p.Arg314Ter
XM_005245499.2:c.940A>T	XP_005245556.1:p.Arg314Ter
XM_011510010.1:c.940A>T	XP_011508312.1:p.Arg314Ter
XM_011510011.1:c.940A>T	XP_011508313.1:p.Arg314Ter
XM_011510012.1:c.709A>T	XP_011508314.1:p.Arg237Ter
XM_011510013.1:c.940A>T	XP_011508315.1:p.Arg314Ter
XM_011510013.3:c.940A>T	XP_011508315.1:p.Arg314Ter
XM_011510014.1:c.940A>T	XP_011508316.1:p.Arg314Ter
XM_011510014.3:c.940A>T	XP_011508316.1:p.Arg314Ter
XM_011510015.1:c.940A>T	XP_011508317.1:p.Arg314Ter
XM_017002397.1:c.709A>T	XP_016857886.1:p.Arg237Ter
XM_017002398.1:c.709A>T	XP_016857887.1:p.Arg237Ter