Canonical Allele Identifier: CA2466663998
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380083C= , CM000685.2:g.154380083C= GRCh38
NC_000023.10:g.153608443C= , CM000685.1:g.153608443C= GRCh37
NC_000023.9:g.153261637C= NCBI36
NG_008677.1:g.10648C= , LRG_745:g.10648C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.265+64C= ENSP00000507245.1:n.265+64C=
ENST00000682478.1:n.305C=
ENST00000683576.1:n.305C=
ENST00000683627.1:c.265+64C= ENSP00000507533.1:n.265+64C=
ENST00000684082.1:c.265+64C= ENSP00000508266.1:n.265+64C=
ENST00000684633.1:n.237+64C=
ENST00000684678.1:c.261+64C= ENSP00000507059.1:n.261+64C=
ENST00000369842.9:c.265+64C= MANE Select ENSP00000358857.4:n.265+64C=
ENST00000369835.3:c.160+64C= ENSP00000358850.3:n.160+64C=
ENST00000369842.8:c.265+64C= ENSP00000358857.4:n.265+64C=
ENST00000428228.5:c.*170+64C= ENSP00000401081.1:n.*170+64C=
ENST00000468294.5:n.225+64C=
ENST00000485261.1:n.305C=
ENST00000486738.5:n.473C=
ENST00000492448.1:n.248+64C=
ENST00000494443.5:n.386C=
NM_000117.2:c.265+64C= , LRG_745t1:c.265+64C= NP_000108.1:n.265+64C=
XM_024452349.1:c.121C= XP_024308117.1:p.Gln41=
NM_000117.3:c.265+64C= MANE Select NP_000108.1:n.265+64C=