Canonical Allele Identifier: CA415258073

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380365C>T , CM000685.2:g.154380365C>T	GRCh38
NC_000023.10:g.153608725C>T , CM000685.1:g.153608725C>T	GRCh37
NC_000023.9:g.153261919C>T	NCBI36
NG_008677.1:g.10930C>T , LRG_745:g.10930C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.397C>T MANE Select	NP_000108.1:p.Gln133Ter
ENST00000369842.9:c.397C>T MANE Select	ENSP00000358857.4:p.Gln133Ter
NM_000117.2:c.397C>T , LRG_745t1:c.397C>T	NP_000108.1:p.Gln133Ter
ENST00000369835.3:c.292C>T	ENSP00000358850.3:p.Gln98Ter
ENST00000369842.8:c.397C>T	ENSP00000358857.4:p.Gln133Ter
ENST00000428228.5:c.*302C>T	ENSP00000401081.1:n.*302C>T
ENST00000468294.5:n.357C>T
ENST00000485261.1:n.587C>T
ENST00000486738.5:n.755C>T
ENST00000492448.1:n.380C>T
ENST00000494443.5:n.668C>T
ENST00000682114.1:c.397C>T	ENSP00000507245.1:p.Gln133Ter
ENST00000682478.1:n.587C>T
ENST00000683576.1:n.587C>T
ENST00000683627.1:c.397C>T	ENSP00000507533.1:p.Gln133Ter
ENST00000684082.1:c.354C>T	ENSP00000508266.1:n.354C>T
ENST00000684633.1:n.369C>T
ENST00000684678.1:c.393C>T	ENSP00000507059.1:n.393C>T
XM_024452349.1:c.403C>T	XP_024308117.1:p.Gln135Ter