Canonical Allele Identifier: CA2466664466
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154381094G= , CM000685.2:g.154381094G= GRCh38
NC_000023.10:g.153609454G= , CM000685.1:g.153609454G= GRCh37
NC_000023.9:g.153262648G= NCBI36
NG_008677.1:g.11659G= , LRG_745:g.11659G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.572+90G= ENSP00000507245.1:n.572+90G=
ENST00000682478.1:n.762+90G=
ENST00000683576.1:n.852G=
ENST00000683627.1:c.662G= ENSP00000507533.1:p.Arg221=
ENST00000684082.1:c.619G= ENSP00000508266.1:n.619G=
ENST00000684633.1:n.634G=
ENST00000684678.1:c.568+90G= ENSP00000507059.1:n.568+90G=
ENST00000369842.9:c.662G= MANE Select ENSP00000358857.4:p.Arg221=
ENST00000369835.3:c.557G= ENSP00000358850.3:p.Arg186=
ENST00000369842.8:c.662G= ENSP00000358857.4:p.Arg221=
ENST00000428228.5:c.*567G= ENSP00000401081.1:n.*567G=
ENST00000471965.1:n.451G=
ENST00000486738.5:n.1099G=
ENST00000492448.1:n.645G=
NM_000117.2:c.662G= , LRG_745t1:c.662G= NP_000108.1:p.Arg221=
XM_024452349.1:c.668G= XP_024308117.1:p.Arg223=
NM_000117.3:c.662G= MANE Select NP_000108.1:p.Arg221=