Canonical Allele Identifier: CA2466664448

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381051C= , CM000685.2:g.154381051C=	GRCh38
NC_000023.10:g.153609411C= , CM000685.1:g.153609411C=	GRCh37
NC_000023.9:g.153262605C=	NCBI36
NG_008677.1:g.11616C= , LRG_745:g.11616C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+47C=	ENSP00000507245.1:n.572+47C=
ENST00000682478.1:n.762+47C=
ENST00000683576.1:n.809C=
ENST00000683627.1:c.619C=	ENSP00000507533.1:p.Arg207=
ENST00000684082.1:c.576C=	ENSP00000508266.1:n.576C=
ENST00000684633.1:n.591C=
ENST00000684678.1:c.568+47C=	ENSP00000507059.1:n.568+47C=
ENST00000369842.9:c.619C= MANE Select	ENSP00000358857.4:p.Arg207=
ENST00000369835.3:c.514C=	ENSP00000358850.3:p.Arg172=
ENST00000369842.8:c.619C=	ENSP00000358857.4:p.Arg207=
ENST00000428228.5:c.*524C=	ENSP00000401081.1:n.*524C=
ENST00000471965.1:n.408C=
ENST00000486738.5:n.1056C=
ENST00000492448.1:n.602C=
NM_000117.2:c.619C= , LRG_745t1:c.619C=	NP_000108.1:p.Arg207=
XM_024452349.1:c.625C=	XP_024308117.1:p.Arg209=
NM_000117.3:c.619C= MANE Select	NP_000108.1:p.Arg207=