Canonical Allele Identifier: CA415258284

Gene: EMD

Linked Data

• ClinVar Variation Id: 1199347
• ClinVar RCV Id: RCV001563915
• dbSNP Id: rs2067882908
• gnomAD v4: X-154380786-G-A
• MyVariant Identifiers: chrX:g.153609146G>A (hg19) ; chrX:g.154380786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380786G>A , CM000685.2:g.154380786G>A	GRCh38
NC_000023.10:g.153609146G>A , CM000685.1:g.153609146G>A	GRCh37
NC_000023.9:g.153262340G>A	NCBI36
NG_008677.1:g.11351G>A , LRG_745:g.11351G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.433G>A	ENSP00000507245.1:p.Glu145Lys
ENST00000682478.1:n.623G>A
ENST00000683576.1:n.623G>A
ENST00000683627.1:c.433G>A	ENSP00000507533.1:p.Glu145Lys
ENST00000684082.1:c.390G>A	ENSP00000508266.1:n.390G>A
ENST00000684633.1:n.405G>A
ENST00000684678.1:c.429G>A	ENSP00000507059.1:n.429G>A
ENST00000369842.9:c.433G>A MANE Select	ENSP00000358857.4:p.Glu145Lys
ENST00000369835.3:c.328G>A	ENSP00000358850.3:p.Glu110Lys
ENST00000369842.8:c.433G>A	ENSP00000358857.4:p.Glu145Lys
ENST00000428228.5:c.*338G>A	ENSP00000401081.1:n.*338G>A
ENST00000468294.5:n.393G>A
ENST00000471965.1:n.222G>A
ENST00000485261.1:n.623G>A
ENST00000486738.5:n.791G>A
ENST00000492448.1:n.416G>A
NM_000117.2:c.433G>A , LRG_745t1:c.433G>A	NP_000108.1:p.Glu145Lys
XM_024452349.1:c.439G>A	XP_024308117.1:p.Glu147Lys
NM_000117.3:c.433G>A MANE Select	NP_000108.1:p.Glu145Lys