Canonical Allele Identifier: CA1138576441

Gene: EMD

Linked Data

• dbSNP Id: rs2067881065
• gnomAD v3: X-154380490-G-A
• gnomAD v4: X-154380490-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380490G>A , CM000685.2:g.154380490G>A	GRCh38
NC_000023.10:g.153608850G>A , CM000685.1:g.153608850G>A	GRCh37
NC_000023.9:g.153262044G>A	NCBI36
NG_008677.1:g.11055G>A , LRG_745:g.11055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+123G>A	ENSP00000507245.1:n.399+123G>A
ENST00000682478.1:n.589+123G>A
ENST00000683576.1:n.589+123G>A
ENST00000683627.1:c.399+123G>A	ENSP00000507533.1:n.399+123G>A
ENST00000684082.1:c.356+123G>A	ENSP00000508266.1:n.356+123G>A
ENST00000684633.1:n.371+123G>A
ENST00000684678.1:c.395+123G>A	ENSP00000507059.1:n.395+123G>A
ENST00000369842.9:c.399+123G>A MANE Select	ENSP00000358857.4:n.399+123G>A
ENST00000369835.3:c.294+123G>A	ENSP00000358850.3:n.294+123G>A
ENST00000369842.8:c.399+123G>A	ENSP00000358857.4:n.399+123G>A
ENST00000428228.5:c.*304+123G>A	ENSP00000401081.1:n.*304+123G>A
ENST00000468294.5:n.359+123G>A
ENST00000485261.1:n.589+123G>A
ENST00000486738.5:n.757+123G>A
ENST00000492448.1:n.382+123G>A
NM_000117.2:c.399+123G>A , LRG_745t1:c.399+123G>A	NP_000108.1:n.399+123G>A
XM_024452349.1:c.405+123G>A	XP_024308117.1:n.405+123G>A
NM_000117.3:c.399+123G>A MANE Select	NP_000108.1:n.399+123G>A