Canonical Allele Identifier: CA2466663725

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379504T= , CM000685.2:g.154379504T=	GRCh38
NC_000023.10:g.153607864T= , CM000685.1:g.153607864T=	GRCh37
NC_000023.9:g.153261058T=	NCBI36
NG_008677.1:g.10069T= , LRG_745:g.10069T=
NG_011506.1:g.143A=
NG_011506.2:g.135A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.20T=	ENSP00000507245.1:p.Leu7=
ENST00000683627.1:c.20T=	ENSP00000507533.1:p.Leu7=
ENST00000684082.1:c.20T=	ENSP00000508266.1:p.Leu7=
ENST00000684678.1:c.20T=	ENSP00000507059.1:p.Leu7=
ENST00000369842.9:c.20T= MANE Select	ENSP00000358857.4:p.Leu7=
ENST00000369835.3:c.20T=	ENSP00000358850.3:p.Leu7=
ENST00000369842.8:c.20T=	ENSP00000358857.4:p.Leu7=
ENST00000428228.5:c.20T=	ENSP00000401081.1:p.Leu7=
ENST00000485261.1:n.101T=
ENST00000486738.5:n.164T=
ENST00000494443.5:n.77T=
NM_000117.2:c.20T= , LRG_745t1:c.20T=	NP_000108.1:p.Leu7=
XM_024452349.1:c.-189T=	XP_024308117.1:n.-189T=
NM_000117.3:c.20T= MANE Select	NP_000108.1:p.Leu7=