Canonical Allele Identifier: CA10561653

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381064G>A , CM000685.2:g.154381064G>A	GRCh38
NC_000023.10:g.153609424G>A , CM000685.1:g.153609424G>A	GRCh37
NC_000023.9:g.153262618G>A	NCBI36
NG_008677.1:g.11629G>A , LRG_745:g.11629G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.632G>A MANE Select	NP_000108.1:p.Arg211His
ENST00000369842.9:c.632G>A MANE Select	ENSP00000358857.4:p.Arg211His
NM_000117.2:c.632G>A , LRG_745t1:c.632G>A	NP_000108.1:p.Arg211His
ENST00000369835.3:c.527G>A	ENSP00000358850.3:p.Arg176His
ENST00000369842.8:c.632G>A	ENSP00000358857.4:p.Arg211His
ENST00000428228.5:c.*537G>A	ENSP00000401081.1:n.*537G>A
ENST00000471965.1:n.421G>A
ENST00000486738.5:n.1069G>A
ENST00000492448.1:n.615G>A
ENST00000682114.1:c.572+60G>A	ENSP00000507245.1:n.572+60G>A
ENST00000682478.1:n.762+60G>A
ENST00000683576.1:n.822G>A
ENST00000683627.1:c.632G>A	ENSP00000507533.1:p.Arg211His
ENST00000684082.1:c.589G>A	ENSP00000508266.1:n.589G>A
ENST00000684633.1:n.604G>A
ENST00000684678.1:c.568+60G>A	ENSP00000507059.1:n.568+60G>A
XM_024452349.1:c.638G>A	XP_024308117.1:p.Arg213His