Canonical Allele Identifier: CA2466663959
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379969A= , CM000685.2:g.154379969A= GRCh38
NC_000023.10:g.153608329A= , CM000685.1:g.153608329A= GRCh37
NC_000023.9:g.153261523A= NCBI36
NG_008677.1:g.10534A= , LRG_745:g.10534A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.215A= ENSP00000507245.1:p.Asp72=
ENST00000682478.1:n.191A=
ENST00000683576.1:n.191A=
ENST00000683627.1:c.215A= ENSP00000507533.1:p.Asp72=
ENST00000684082.1:c.215A= ENSP00000508266.1:p.Asp72=
ENST00000684633.1:n.187A=
ENST00000684678.1:c.211A= ENSP00000507059.1:n.211A=
ENST00000369842.9:c.215A= MANE Select ENSP00000358857.4:p.Asp72=
ENST00000369835.3:c.110A= ENSP00000358850.3:p.Asp37=
ENST00000369842.8:c.215A= ENSP00000358857.4:p.Asp72=
ENST00000428228.5:c.*120A= ENSP00000401081.1:n.*120A=
ENST00000468294.5:n.175A=
ENST00000485261.1:n.191A=
ENST00000486738.5:n.359A=
ENST00000492448.1:n.198A=
ENST00000494443.5:n.272A=
NM_000117.2:c.215A= , LRG_745t1:c.215A= NP_000108.1:p.Asp72=
XM_024452349.1:c.7A= XP_024308117.1:p.Ile3=
NM_000117.3:c.215A= MANE Select NP_000108.1:p.Asp72=