Canonical Allele Identifier: CA16020697

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380980C>G , CM000685.2:g.154380980C>G	GRCh38
NC_000023.10:g.153609340C>G , CM000685.1:g.153609340C>G	GRCh37
NC_000023.9:g.153262534C>G	NCBI36
NG_008677.1:g.11545C>G , LRG_745:g.11545C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.548C>G	ENSP00000507245.1:p.Pro183Arg
ENST00000682478.1:n.738C>G
ENST00000683576.1:n.738C>G
ENST00000683627.1:c.548C>G	ENSP00000507533.1:p.Pro183Arg
ENST00000684082.1:c.505C>G	ENSP00000508266.1:n.505C>G
ENST00000684633.1:n.520C>G
ENST00000684678.1:c.544C>G	ENSP00000507059.1:n.544C>G
ENST00000369842.9:c.548C>G MANE Select	ENSP00000358857.4:p.Pro183Arg
ENST00000369835.3:c.443C>G	ENSP00000358850.3:p.Pro148Arg
ENST00000369842.8:c.548C>G	ENSP00000358857.4:p.Pro183Arg
ENST00000428228.5:c.*453C>G	ENSP00000401081.1:n.*453C>G
ENST00000471965.1:n.337C>G
ENST00000486738.5:n.985C>G
ENST00000492448.1:n.531C>G
NM_000117.2:c.548C>G , LRG_745t1:c.548C>G	NP_000108.1:p.Pro183Arg
XM_024452349.1:c.554C>G	XP_024308117.1:p.Pro185Arg
NM_000117.3:c.548C>G MANE Select	NP_000108.1:p.Pro183Arg