Canonical Allele Identifier: CA2466664430

Gene: EMD

Linked Data

• dbSNP Id: rs2067885187

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381025dup , CM000685.2:g.154381025dup	GRCh38
NC_000023.10:g.153609385dup , CM000685.1:g.153609385dup	GRCh37
NC_000023.9:g.153262579dup	NCBI36
NG_008677.1:g.11590dup , LRG_745:g.11590dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+21dup	ENSP00000507245.1:n.572+21dup
ENST00000682478.1:n.762+21dup
ENST00000683576.1:n.783dup
ENST00000683627.1:c.593dup	ENSP00000507533.1:p.Ser199PhefsTer11
ENST00000684082.1:c.550dup	ENSP00000508266.1:n.550dup
ENST00000684633.1:n.565dup
ENST00000684678.1:c.568+21dup	ENSP00000507059.1:n.568+21dup
ENST00000369842.9:c.593dup MANE Select	ENSP00000358857.4:p.Ser199PhefsTer11
ENST00000369835.3:c.488dup	ENSP00000358850.3:p.Ser164PhefsTer11
ENST00000369842.8:c.593dup	ENSP00000358857.4:p.Ser199PhefsTer11
ENST00000428228.5:c.*498dup	ENSP00000401081.1:n.*498dup
ENST00000471965.1:n.382dup
ENST00000486738.5:n.1030dup
ENST00000492448.1:n.576dup
NM_000117.2:c.593dup , LRG_745t1:c.593dup	NP_000108.1:p.Ser199PhefsTer11
XM_024452349.1:c.599dup	XP_024308117.1:p.Ser201PhefsTer11
NM_000117.3:c.593dup MANE Select	NP_000108.1:p.Ser199PhefsTer11