Canonical Allele Identifier: CA2466664180
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380503C= , CM000685.2:g.154380503C= GRCh38
NC_000023.10:g.153608863C= , CM000685.1:g.153608863C= GRCh37
NC_000023.9:g.153262057C= NCBI36
NG_008677.1:g.11068C= , LRG_745:g.11068C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.399+136C= ENSP00000507245.1:n.399+136C=
ENST00000682478.1:n.589+136C=
ENST00000683576.1:n.589+136C=
ENST00000683627.1:c.399+136C= ENSP00000507533.1:n.399+136C=
ENST00000684082.1:c.356+136C= ENSP00000508266.1:n.356+136C=
ENST00000684633.1:n.371+136C=
ENST00000684678.1:c.395+136C= ENSP00000507059.1:n.395+136C=
ENST00000369842.9:c.399+136C= MANE Select ENSP00000358857.4:n.399+136C=
ENST00000369835.3:c.294+136C= ENSP00000358850.3:n.294+136C=
ENST00000369842.8:c.399+136C= ENSP00000358857.4:n.399+136C=
ENST00000428228.5:c.*304+136C= ENSP00000401081.1:n.*304+136C=
ENST00000468294.5:n.359+136C=
ENST00000485261.1:n.589+136C=
ENST00000486738.5:n.757+136C=
ENST00000492448.1:n.382+136C=
NM_000117.2:c.399+136C= , LRG_745t1:c.399+136C= NP_000108.1:n.399+136C=
XM_024452349.1:c.405+136C= XP_024308117.1:n.405+136C=
NM_000117.3:c.399+136C= MANE Select NP_000108.1:n.399+136C=