Canonical Allele Identifier: CA2466663846
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379743C= , CM000685.2:g.154379743C= GRCh38
NC_000023.10:g.153608103C= , CM000685.1:g.153608103C= GRCh37
NC_000023.9:g.153261297C= NCBI36
NG_008677.1:g.10308C= , LRG_745:g.10308C=

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.136C= ENSP00000507245.1:p.Arg46=
ENST00000682478.1:n.112C=
ENST00000683576.1:n.112C=
ENST00000683627.1:c.136C= ENSP00000507533.1:p.Arg46=
ENST00000684082.1:c.136C= ENSP00000508266.1:p.Arg46=
ENST00000684633.1:n.108C=
ENST00000684678.1:c.132C= ENSP00000507059.1:p.Gly44=
ENST00000369842.9:c.136C= MANE Select ENSP00000358857.4:p.Arg46=
ENST00000369835.3:c.82+177C= ENSP00000358850.3:n.82+177C=
ENST00000369842.8:c.136C= ENSP00000358857.4:p.Arg46=
ENST00000428228.5:c.*41C= ENSP00000401081.1:n.*41C=
ENST00000468294.5:n.96C=
ENST00000485261.1:n.163+177C=
ENST00000486738.5:n.280C=
ENST00000492448.1:n.119C=
ENST00000494443.5:n.193C=
NM_000117.2:c.136C= , LRG_745t1:c.136C= NP_000108.1:p.Arg46=
XM_024452349.1:c.-73C= XP_024308117.1:n.-73C=
NM_000117.3:c.136C= MANE Select NP_000108.1:p.Arg46=