Canonical Allele Identifier: CA10561582

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380353G>A , CM000685.2:g.154380353G>A	GRCh38
NC_000023.10:g.153608713G>A , CM000685.1:g.153608713G>A	GRCh37
NC_000023.9:g.153261907G>A	NCBI36
NG_008677.1:g.10918G>A , LRG_745:g.10918G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.385G>A MANE Select	NP_000108.1:p.Ala129Thr
ENST00000369842.9:c.385G>A MANE Select	ENSP00000358857.4:p.Ala129Thr
NM_000117.2:c.385G>A , LRG_745t1:c.385G>A	NP_000108.1:p.Ala129Thr
ENST00000369835.3:c.280G>A	ENSP00000358850.3:p.Ala94Thr
ENST00000369842.8:c.385G>A	ENSP00000358857.4:p.Ala129Thr
ENST00000428228.5:c.*290G>A	ENSP00000401081.1:n.*290G>A
ENST00000468294.5:n.345G>A
ENST00000485261.1:n.575G>A
ENST00000486738.5:n.743G>A
ENST00000492448.1:n.368G>A
ENST00000494443.5:n.656G>A
ENST00000682114.1:c.385G>A	ENSP00000507245.1:p.Ala129Thr
ENST00000682478.1:n.575G>A
ENST00000683576.1:n.575G>A
ENST00000683627.1:c.385G>A	ENSP00000507533.1:p.Ala129Thr
ENST00000684082.1:c.342G>A	ENSP00000508266.1:n.342G>A
ENST00000684633.1:n.357G>A
ENST00000684678.1:c.381G>A	ENSP00000507059.1:n.381G>A
XM_024452349.1:c.391G>A	XP_024308117.1:p.Ala131Thr