Canonical Allele Identifier: CA2466663969
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379997C= , CM000685.2:g.154379997C= GRCh38
NC_000023.10:g.153608357C= , CM000685.1:g.153608357C= GRCh37
NC_000023.9:g.153261551C= NCBI36
NG_008677.1:g.10562C= , LRG_745:g.10562C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.243C= ENSP00000507245.1:p.Asp81=
ENST00000682478.1:n.219C=
ENST00000683576.1:n.219C=
ENST00000683627.1:c.243C= ENSP00000507533.1:p.Asp81=
ENST00000684082.1:c.243C= ENSP00000508266.1:p.Asp81=
ENST00000684633.1:n.215C=
ENST00000684678.1:c.239C= ENSP00000507059.1:n.239C=
ENST00000369842.9:c.243C= MANE Select ENSP00000358857.4:p.Asp81=
ENST00000369835.3:c.138C= ENSP00000358850.3:p.Asp46=
ENST00000369842.8:c.243C= ENSP00000358857.4:p.Asp81=
ENST00000428228.5:c.*148C= ENSP00000401081.1:n.*148C=
ENST00000468294.5:n.203C=
ENST00000485261.1:n.219C=
ENST00000486738.5:n.387C=
ENST00000492448.1:n.226C=
ENST00000494443.5:n.300C=
NM_000117.2:c.243C= , LRG_745t1:c.243C= NP_000108.1:p.Asp81=
XM_024452349.1:c.35C= XP_024308117.1:p.Thr12=
NM_000117.3:c.243C= MANE Select NP_000108.1:p.Asp81=