Canonical Allele Identifier: CA2466664455

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381063C= , CM000685.2:g.154381063C=	GRCh38
NC_000023.10:g.153609423C= , CM000685.1:g.153609423C=	GRCh37
NC_000023.9:g.153262617C=	NCBI36
NG_008677.1:g.11628C= , LRG_745:g.11628C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+59C=	ENSP00000507245.1:n.572+59C=
ENST00000682478.1:n.762+59C=
ENST00000683576.1:n.821C=
ENST00000683627.1:c.631C=	ENSP00000507533.1:p.Arg211=
ENST00000684082.1:c.588C=	ENSP00000508266.1:n.588C=
ENST00000684633.1:n.603C=
ENST00000684678.1:c.568+59C=	ENSP00000507059.1:n.568+59C=
ENST00000369842.9:c.631C= MANE Select	ENSP00000358857.4:p.Arg211=
ENST00000369835.3:c.526C=	ENSP00000358850.3:p.Arg176=
ENST00000369842.8:c.631C=	ENSP00000358857.4:p.Arg211=
ENST00000428228.5:c.*536C=	ENSP00000401081.1:n.*536C=
ENST00000471965.1:n.420C=
ENST00000486738.5:n.1068C=
ENST00000492448.1:n.614C=
NM_000117.2:c.631C= , LRG_745t1:c.631C=	NP_000108.1:p.Arg211=
XM_024452349.1:c.637C=	XP_024308117.1:p.Arg213=
NM_000117.3:c.631C= MANE Select	NP_000108.1:p.Arg211=