Canonical Allele Identifier: CA2466663983
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380030G= , CM000685.2:g.154380030G= GRCh38
NC_000023.10:g.153608390G= , CM000685.1:g.153608390G= GRCh37
NC_000023.9:g.153261584G= NCBI36
NG_008677.1:g.10595G= , LRG_745:g.10595G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.265+11G= ENSP00000507245.1:n.265+11G=
ENST00000682478.1:n.252G=
ENST00000683576.1:n.252G=
ENST00000683627.1:c.265+11G= ENSP00000507533.1:n.265+11G=
ENST00000684082.1:c.265+11G= ENSP00000508266.1:n.265+11G=
ENST00000684633.1:n.237+11G=
ENST00000684678.1:c.261+11G= ENSP00000507059.1:n.261+11G=
ENST00000369842.9:c.265+11G= MANE Select ENSP00000358857.4:n.265+11G=
ENST00000369835.3:c.160+11G= ENSP00000358850.3:n.160+11G=
ENST00000369842.8:c.265+11G= ENSP00000358857.4:n.265+11G=
ENST00000428228.5:c.*170+11G= ENSP00000401081.1:n.*170+11G=
ENST00000468294.5:n.225+11G=
ENST00000485261.1:n.252G=
ENST00000486738.5:n.420G=
ENST00000492448.1:n.248+11G=
ENST00000494443.5:n.333G=
NM_000117.2:c.265+11G= , LRG_745t1:c.265+11G= NP_000108.1:n.265+11G=
XM_024452349.1:c.68G= XP_024308117.1:p.Gly23=
NM_000117.3:c.265+11G= MANE Select NP_000108.1:n.265+11G=