Canonical Allele Identifier: CA2466664378

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380926C= , CM000685.2:g.154380926C=	GRCh38
NC_000023.10:g.153609286C= , CM000685.1:g.153609286C=	GRCh37
NC_000023.9:g.153262480C=	NCBI36
NG_008677.1:g.11491C= , LRG_745:g.11491C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.494C=	ENSP00000507245.1:p.Thr165=
ENST00000682478.1:n.684C=
ENST00000683576.1:n.684C=
ENST00000683627.1:c.494C=	ENSP00000507533.1:p.Thr165=
ENST00000684082.1:c.451C=	ENSP00000508266.1:n.451C=
ENST00000684633.1:n.466C=
ENST00000684678.1:c.490C=	ENSP00000507059.1:n.490C=
ENST00000369842.9:c.494C= MANE Select	ENSP00000358857.4:p.Thr165=
ENST00000369835.3:c.389C=	ENSP00000358850.3:p.Thr130=
ENST00000369842.8:c.494C=	ENSP00000358857.4:p.Thr165=
ENST00000428228.5:c.*399C=	ENSP00000401081.1:n.*399C=
ENST00000471965.1:n.283C=
ENST00000485261.1:n.763C=
ENST00000486738.5:n.931C=
ENST00000492448.1:n.477C=
NM_000117.2:c.494C= , LRG_745t1:c.494C=	NP_000108.1:p.Thr165=
XM_024452349.1:c.500C=	XP_024308117.1:p.Thr167=
NM_000117.3:c.494C= MANE Select	NP_000108.1:p.Thr165=