Canonical Allele Identifier: CA2824296167

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380024G>A , CM000685.2:g.154380024G>A	GRCh38
NC_000023.10:g.153608384G>A , CM000685.1:g.153608384G>A	GRCh37
NC_000023.9:g.153261578G>A	NCBI36
NG_008677.1:g.10589G>A , LRG_745:g.10589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+5G>A	ENSP00000507245.1:n.265+5G>A
ENST00000682478.1:n.246G>A
ENST00000683576.1:n.246G>A
ENST00000683627.1:c.265+5G>A	ENSP00000507533.1:n.265+5G>A
ENST00000684082.1:c.265+5G>A	ENSP00000508266.1:n.265+5G>A
ENST00000684633.1:n.237+5G>A
ENST00000684678.1:c.261+5G>A	ENSP00000507059.1:n.261+5G>A
ENST00000369842.9:c.265+5G>A MANE Select	ENSP00000358857.4:n.265+5G>A
ENST00000369835.3:c.160+5G>A	ENSP00000358850.3:n.160+5G>A
ENST00000369842.8:c.265+5G>A	ENSP00000358857.4:n.265+5G>A
ENST00000428228.5:c.*170+5G>A	ENSP00000401081.1:n.*170+5G>A
ENST00000468294.5:n.225+5G>A
ENST00000485261.1:n.246G>A
ENST00000486738.5:n.414G>A
ENST00000492448.1:n.248+5G>A
ENST00000494443.5:n.327G>A
NM_000117.2:c.265+5G>A , LRG_745t1:c.265+5G>A	NP_000108.1:n.265+5G>A
XM_024452349.1:c.62G>A	XP_024308117.1:p.Arg21Lys
NM_000117.3:c.265+5G>A MANE Select	NP_000108.1:n.265+5G>A