Canonical Allele Identifier: CA10561671

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381178A>G , CM000685.2:g.154381178A>G	GRCh38
NC_000023.10:g.153609538A>G , CM000685.1:g.153609538A>G	GRCh37
NC_000023.9:g.153262732A>G	NCBI36
NG_008677.1:g.11743A>G , LRG_745:g.11743A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.746A>G MANE Select	NP_000108.1:p.Glu249Gly
ENST00000369842.9:c.746A>G MANE Select	ENSP00000358857.4:p.Glu249Gly
NM_000117.2:c.746A>G , LRG_745t1:c.746A>G	NP_000108.1:p.Glu249Gly
ENST00000369835.3:c.641A>G	ENSP00000358850.3:p.Glu214Gly
ENST00000369842.8:c.746A>G	ENSP00000358857.4:p.Glu249Gly
ENST00000428228.5:c.*651A>G	ENSP00000401081.1:n.*651A>G
ENST00000471965.1:n.535A>G
ENST00000486738.5:n.1183A>G
ENST00000492448.1:n.729A>G
ENST00000682114.1:c.572+174A>G	ENSP00000507245.1:n.572+174A>G
ENST00000682478.1:n.762+174A>G
ENST00000683576.1:n.936A>G
ENST00000683627.1:c.746A>G	ENSP00000507533.1:p.Glu249Gly
ENST00000684082.1:c.703A>G	ENSP00000508266.1:n.703A>G
ENST00000684633.1:n.718A>G
ENST00000684678.1:c.568+174A>G	ENSP00000507059.1:n.568+174A>G
XM_024452349.1:c.752A>G	XP_024308117.1:p.Glu251Gly