Canonical Allele Identifier: CA2739273882

Gene: EMD

Linked Data

• ClinVar Variation Id: 2837326
• ClinVar RCV Id: RCV003640064

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380029G>A , CM000685.2:g.154380029G>A	GRCh38
NC_000023.10:g.153608389G>A , CM000685.1:g.153608389G>A	GRCh37
NC_000023.9:g.153261583G>A	NCBI36
NG_008677.1:g.10594G>A , LRG_745:g.10594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+10G>A	ENSP00000507245.1:n.265+10G>A
ENST00000682478.1:n.251G>A
ENST00000683576.1:n.251G>A
ENST00000683627.1:c.265+10G>A	ENSP00000507533.1:n.265+10G>A
ENST00000684082.1:c.265+10G>A	ENSP00000508266.1:n.265+10G>A
ENST00000684633.1:n.237+10G>A
ENST00000684678.1:c.261+10G>A	ENSP00000507059.1:n.261+10G>A
ENST00000369842.9:c.265+10G>A MANE Select	ENSP00000358857.4:n.265+10G>A
ENST00000369835.3:c.160+10G>A	ENSP00000358850.3:n.160+10G>A
ENST00000369842.8:c.265+10G>A	ENSP00000358857.4:n.265+10G>A
ENST00000428228.5:c.*170+10G>A	ENSP00000401081.1:n.*170+10G>A
ENST00000468294.5:n.225+10G>A
ENST00000485261.1:n.251G>A
ENST00000486738.5:n.419G>A
ENST00000492448.1:n.248+10G>A
ENST00000494443.5:n.332G>A
NM_000117.2:c.265+10G>A , LRG_745t1:c.265+10G>A	NP_000108.1:n.265+10G>A
XM_024452349.1:c.67G>A	XP_024308117.1:p.Gly23Arg
NM_000117.3:c.265+10G>A MANE Select	NP_000108.1:n.265+10G>A