Canonical Allele Identifier: CA2466663842

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379737C= , CM000685.2:g.154379737C=	GRCh38
NC_000023.10:g.153608097C= , CM000685.1:g.153608097C=	GRCh37
NC_000023.9:g.153261291C=	NCBI36
NG_008677.1:g.10302C= , LRG_745:g.10302C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.130C=	ENSP00000507245.1:p.Gln44=
ENST00000682478.1:n.106C=
ENST00000683576.1:n.106C=
ENST00000683627.1:c.130C=	ENSP00000507533.1:p.Gln44=
ENST00000684082.1:c.130C=	ENSP00000508266.1:p.Gln44=
ENST00000684633.1:n.102C=
ENST00000684678.1:c.126C=	ENSP00000507059.1:p.Pro42=
ENST00000369842.9:c.130C= MANE Select	ENSP00000358857.4:p.Gln44=
ENST00000369835.3:c.82+171C=	ENSP00000358850.3:n.82+171C=
ENST00000369842.8:c.130C=	ENSP00000358857.4:p.Gln44=
ENST00000428228.5:c.*35C=	ENSP00000401081.1:n.*35C=
ENST00000468294.5:n.90C=
ENST00000485261.1:n.163+171C=
ENST00000486738.5:n.274C=
ENST00000492448.1:n.113C=
ENST00000494443.5:n.187C=
NM_000117.2:c.130C= , LRG_745t1:c.130C=	NP_000108.1:p.Gln44=
XM_024452349.1:c.-79C=	XP_024308117.1:n.-79C=
NM_000117.3:c.130C= MANE Select	NP_000108.1:p.Gln44=