Canonical Allele Identifier: CA2466664293

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380753G= , CM000685.2:g.154380753G=	GRCh38
NC_000023.10:g.153609113G= , CM000685.1:g.153609113G=	GRCh37
NC_000023.9:g.153262307G=	NCBI36
NG_008677.1:g.11318G= , LRG_745:g.11318G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400G=	ENSP00000507245.1:p.Val134=
ENST00000682478.1:n.590G=
ENST00000683576.1:n.590G=
ENST00000683627.1:c.400G=	ENSP00000507533.1:p.Val134=
ENST00000684082.1:c.357G=	ENSP00000508266.1:n.357G=
ENST00000684633.1:n.372G=
ENST00000684678.1:c.396G=	ENSP00000507059.1:n.396G=
ENST00000369842.9:c.400G= MANE Select	ENSP00000358857.4:p.Val134=
ENST00000369835.3:c.295G=	ENSP00000358850.3:p.Val99=
ENST00000369842.8:c.400G=	ENSP00000358857.4:p.Val134=
ENST00000428228.5:c.*305G=	ENSP00000401081.1:n.*305G=
ENST00000468294.5:n.360G=
ENST00000471965.1:n.189G=
ENST00000485261.1:n.590G=
ENST00000486738.5:n.758G=
ENST00000492448.1:n.383G=
NM_000117.2:c.400G= , LRG_745t1:c.400G=	NP_000108.1:p.Val134=
XM_024452349.1:c.406G=	XP_024308117.1:p.Val136=
NM_000117.3:c.400G= MANE Select	NP_000108.1:p.Val134=