Canonical Allele Identifier: CA2466663847
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379744G= , CM000685.2:g.154379744G= GRCh38
NC_000023.10:g.153608104G= , CM000685.1:g.153608104G= GRCh37
NC_000023.9:g.153261298G= NCBI36
NG_008677.1:g.10309G= , LRG_745:g.10309G=

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.137G= ENSP00000507245.1:p.Arg46=
ENST00000682478.1:n.113G=
ENST00000683576.1:n.113G=
ENST00000683627.1:c.137G= ENSP00000507533.1:p.Arg46=
ENST00000684082.1:c.137G= ENSP00000508266.1:p.Arg46=
ENST00000684633.1:n.109G=
ENST00000684678.1:c.133G= ENSP00000507059.1:p.Gly45=
ENST00000369842.9:c.137G= MANE Select ENSP00000358857.4:p.Arg46=
ENST00000369835.3:c.82+178G= ENSP00000358850.3:n.82+178G=
ENST00000369842.8:c.137G= ENSP00000358857.4:p.Arg46=
ENST00000428228.5:c.*42G= ENSP00000401081.1:n.*42G=
ENST00000468294.5:n.97G=
ENST00000485261.1:n.163+178G=
ENST00000486738.5:n.281G=
ENST00000492448.1:n.120G=
ENST00000494443.5:n.194G=
NM_000117.2:c.137G= , LRG_745t1:c.137G= NP_000108.1:p.Arg46=
XM_024452349.1:c.-72G= XP_024308117.1:n.-72G=
NM_000117.3:c.137G= MANE Select NP_000108.1:p.Arg46=