Canonical Allele Identifier: CA2466663859
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379773G= , CM000685.2:g.154379773G= GRCh38
NC_000023.10:g.153608133G= , CM000685.1:g.153608133G= GRCh37
NC_000023.9:g.153261327G= NCBI36
NG_008677.1:g.10338G= , LRG_745:g.10338G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.166G= ENSP00000507245.1:p.Ala56=
ENST00000682478.1:n.142G=
ENST00000683576.1:n.142G=
ENST00000683627.1:c.166G= ENSP00000507533.1:p.Ala56=
ENST00000684082.1:c.166G= ENSP00000508266.1:p.Ala56=
ENST00000684633.1:n.138G=
ENST00000684678.1:c.162G= ENSP00000507059.1:p.Pro54=
ENST00000369842.9:c.166G= MANE Select ENSP00000358857.4:p.Ala56=
ENST00000369835.3:c.83-169G= ENSP00000358850.3:n.83-169G=
ENST00000369842.8:c.166G= ENSP00000358857.4:p.Ala56=
ENST00000428228.5:c.*71G= ENSP00000401081.1:n.*71G=
ENST00000468294.5:n.126G=
ENST00000485261.1:n.164-169G=
ENST00000486738.5:n.310G=
ENST00000492448.1:n.149G=
ENST00000494443.5:n.223G=
NM_000117.2:c.166G= , LRG_745t1:c.166G= NP_000108.1:p.Ala56=
XM_024452349.1:c.-43G= XP_024308117.1:n.-43G=
NM_000117.3:c.166G= MANE Select NP_000108.1:p.Ala56=