Canonical Allele Identifier: CA131130

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380927G>A , CM000685.2:g.154380927G>A	GRCh38
NC_000023.10:g.153609287G>A , CM000685.1:g.153609287G>A	GRCh37
NC_000023.9:g.153262481G>A	NCBI36
NG_008677.1:g.11492G>A , LRG_745:g.11492G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.495G>A MANE Select	NP_000108.1:p.Thr165=
ENST00000369842.9:c.495G>A MANE Select	ENSP00000358857.4:p.Thr165=
NM_000117.2:c.495G>A , LRG_745t1:c.495G>A	NP_000108.1:p.Thr165=
ENST00000369835.3:c.390G>A	ENSP00000358850.3:p.Thr130=
ENST00000369842.8:c.495G>A	ENSP00000358857.4:p.Thr165=
ENST00000428228.5:c.*400G>A	ENSP00000401081.1:n.*400G>A
ENST00000471965.1:n.284G>A
ENST00000485261.1:n.764G>A
ENST00000486738.5:n.932G>A
ENST00000492448.1:n.478G>A
ENST00000682114.1:c.495G>A	ENSP00000507245.1:p.Thr165=
ENST00000682478.1:n.685G>A
ENST00000683576.1:n.685G>A
ENST00000683627.1:c.495G>A	ENSP00000507533.1:p.Thr165=
ENST00000684082.1:c.452G>A	ENSP00000508266.1:n.452G>A
ENST00000684633.1:n.467G>A
ENST00000684678.1:c.491G>A	ENSP00000507059.1:n.491G>A
XM_024452349.1:c.501G>A	XP_024308117.1:p.Thr167=