Canonical Allele Identifier: CA10561665

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381144G>A , CM000685.2:g.154381144G>A	GRCh38
NC_000023.10:g.153609504G>A , CM000685.1:g.153609504G>A	GRCh37
NC_000023.9:g.153262698G>A	NCBI36
NG_008677.1:g.11709G>A , LRG_745:g.11709G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.712G>A MANE Select	NP_000108.1:p.Val238Ile
ENST00000369842.9:c.712G>A MANE Select	ENSP00000358857.4:p.Val238Ile
NM_000117.2:c.712G>A , LRG_745t1:c.712G>A	NP_000108.1:p.Val238Ile
ENST00000369835.3:c.607G>A	ENSP00000358850.3:p.Val203Ile
ENST00000369842.8:c.712G>A	ENSP00000358857.4:p.Val238Ile
ENST00000428228.5:c.*617G>A	ENSP00000401081.1:n.*617G>A
ENST00000471965.1:n.501G>A
ENST00000486738.5:n.1149G>A
ENST00000492448.1:n.695G>A
ENST00000682114.1:c.572+140G>A	ENSP00000507245.1:n.572+140G>A
ENST00000682478.1:n.762+140G>A
ENST00000683576.1:n.902G>A
ENST00000683627.1:c.712G>A	ENSP00000507533.1:p.Val238Ile
ENST00000684082.1:c.669G>A	ENSP00000508266.1:n.669G>A
ENST00000684633.1:n.684G>A
ENST00000684678.1:c.568+140G>A	ENSP00000507059.1:n.568+140G>A
XM_024452349.1:c.718G>A	XP_024308117.1:p.Val240Ile