Canonical Allele Identifier: CA2740090162

Gene: EMD

Linked Data

• ClinVar Variation Id: 2967457
• ClinVar RCV Id: RCV003824135

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380738G>A , CM000685.2:g.154380738G>A	GRCh38
NC_000023.10:g.153609098G>A , CM000685.1:g.153609098G>A	GRCh37
NC_000023.9:g.153262292G>A	NCBI36
NG_008677.1:g.11303G>A , LRG_745:g.11303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-15G>A	ENSP00000507245.1:n.400-15G>A
ENST00000682478.1:n.590-15G>A
ENST00000683576.1:n.590-15G>A
ENST00000683627.1:c.400-15G>A	ENSP00000507533.1:n.400-15G>A
ENST00000684082.1:c.357-15G>A	ENSP00000508266.1:n.357-15G>A
ENST00000684633.1:n.372-15G>A
ENST00000684678.1:c.396-15G>A	ENSP00000507059.1:n.396-15G>A
ENST00000369842.9:c.400-15G>A MANE Select	ENSP00000358857.4:n.400-15G>A
ENST00000369835.3:c.295-15G>A	ENSP00000358850.3:n.295-15G>A
ENST00000369842.8:c.400-15G>A	ENSP00000358857.4:n.400-15G>A
ENST00000428228.5:c.*305-15G>A	ENSP00000401081.1:n.*305-15G>A
ENST00000468294.5:n.360-15G>A
ENST00000471965.1:n.174G>A
ENST00000485261.1:n.590-15G>A
ENST00000486738.5:n.758-15G>A
ENST00000492448.1:n.383-15G>A
NM_000117.2:c.400-15G>A , LRG_745t1:c.400-15G>A	NP_000108.1:n.400-15G>A
XM_024452349.1:c.406-15G>A	XP_024308117.1:n.406-15G>A
NM_000117.3:c.400-15G>A MANE Select	NP_000108.1:n.400-15G>A