Canonical Allele Identifier: CA2466663962

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379988G= , CM000685.2:g.154379988G=	GRCh38
NC_000023.10:g.153608348G= , CM000685.1:g.153608348G=	GRCh37
NC_000023.9:g.153261542G=	NCBI36
NG_008677.1:g.10553G= , LRG_745:g.10553G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.234G=	ENSP00000507245.1:p.Lys78=
ENST00000682478.1:n.210G=
ENST00000683576.1:n.210G=
ENST00000683627.1:c.234G=	ENSP00000507533.1:p.Lys78=
ENST00000684082.1:c.234G=	ENSP00000508266.1:p.Lys78=
ENST00000684633.1:n.206G=
ENST00000684678.1:c.230G=	ENSP00000507059.1:n.230G=
ENST00000369842.9:c.234G= MANE Select	ENSP00000358857.4:p.Lys78=
ENST00000369835.3:c.129G=	ENSP00000358850.3:p.Lys43=
ENST00000369842.8:c.234G=	ENSP00000358857.4:p.Lys78=
ENST00000428228.5:c.*139G=	ENSP00000401081.1:n.*139G=
ENST00000468294.5:n.194G=
ENST00000485261.1:n.210G=
ENST00000486738.5:n.378G=
ENST00000492448.1:n.217G=
ENST00000494443.5:n.291G=
NM_000117.2:c.234G= , LRG_745t1:c.234G=	NP_000108.1:p.Lys78=
XM_024452349.1:c.26G=	XP_024308117.1:p.Arg9=
NM_000117.3:c.234G= MANE Select	NP_000108.1:p.Lys78=