Canonical Allele Identifier: CA415259229

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381114C>T , CM000685.2:g.154381114C>T	GRCh38
NC_000023.10:g.153609474C>T , CM000685.1:g.153609474C>T	GRCh37
NC_000023.9:g.153262668C>T	NCBI36
NG_008677.1:g.11679C>T , LRG_745:g.11679C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.682C>T MANE Select	NP_000108.1:p.Gln228Ter
ENST00000369842.9:c.682C>T MANE Select	ENSP00000358857.4:p.Gln228Ter
NM_000117.2:c.682C>T , LRG_745t1:c.682C>T	NP_000108.1:p.Gln228Ter
ENST00000369835.3:c.577C>T	ENSP00000358850.3:p.Gln193Ter
ENST00000369842.8:c.682C>T	ENSP00000358857.4:p.Gln228Ter
ENST00000428228.5:c.*587C>T	ENSP00000401081.1:n.*587C>T
ENST00000471965.1:n.471C>T
ENST00000486738.5:n.1119C>T
ENST00000492448.1:n.665C>T
ENST00000682114.1:c.572+110C>T	ENSP00000507245.1:n.572+110C>T
ENST00000682478.1:n.762+110C>T
ENST00000683576.1:n.872C>T
ENST00000683627.1:c.682C>T	ENSP00000507533.1:p.Gln228Ter
ENST00000684082.1:c.639C>T	ENSP00000508266.1:n.639C>T
ENST00000684633.1:n.654C>T
ENST00000684678.1:c.568+110C>T	ENSP00000507059.1:n.568+110C>T
XM_024452349.1:c.688C>T	XP_024308117.1:p.Gln230Ter