Canonical Allele Identifier: CA2466663986
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380043C= , CM000685.2:g.154380043C= GRCh38
NC_000023.10:g.153608403C= , CM000685.1:g.153608403C= GRCh37
NC_000023.9:g.153261597C= NCBI36
NG_008677.1:g.10608C= , LRG_745:g.10608C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.265+24C= ENSP00000507245.1:n.265+24C=
ENST00000682478.1:n.265C=
ENST00000683576.1:n.265C=
ENST00000683627.1:c.265+24C= ENSP00000507533.1:n.265+24C=
ENST00000684082.1:c.265+24C= ENSP00000508266.1:n.265+24C=
ENST00000684633.1:n.237+24C=
ENST00000684678.1:c.261+24C= ENSP00000507059.1:n.261+24C=
ENST00000369842.9:c.265+24C= MANE Select ENSP00000358857.4:n.265+24C=
ENST00000369835.3:c.160+24C= ENSP00000358850.3:n.160+24C=
ENST00000369842.8:c.265+24C= ENSP00000358857.4:n.265+24C=
ENST00000428228.5:c.*170+24C= ENSP00000401081.1:n.*170+24C=
ENST00000468294.5:n.225+24C=
ENST00000485261.1:n.265C=
ENST00000486738.5:n.433C=
ENST00000492448.1:n.248+24C=
ENST00000494443.5:n.346C=
NM_000117.2:c.265+24C= , LRG_745t1:c.265+24C= NP_000108.1:n.265+24C=
XM_024452349.1:c.81C= XP_024308117.1:p.His27=
NM_000117.3:c.265+24C= MANE Select NP_000108.1:n.265+24C=