Canonical Allele Identifier: CA519709807

Gene: EMD

Linked Data

• ClinVar Variation Id: 2978599
• ClinVar RCV Id: RCV003839245
• dbSNP Id: rs1557182564
• gnomAD v2: X-153609151-G-A
• gnomAD v4: X-154380791-G-A
• MyVariant Identifiers: chrX:g.153609151G>A (hg19) ; chrX:g.154380791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380791G>A , CM000685.2:g.154380791G>A	GRCh38
NC_000023.10:g.153609151G>A , CM000685.1:g.153609151G>A	GRCh37
NC_000023.9:g.153262345G>A	NCBI36
NG_008677.1:g.11356G>A , LRG_745:g.11356G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.438G>A	ENSP00000507245.1:p.Glu146=
ENST00000682478.1:n.628G>A
ENST00000683576.1:n.628G>A
ENST00000683627.1:c.438G>A	ENSP00000507533.1:p.Glu146=
ENST00000684082.1:c.395G>A	ENSP00000508266.1:n.395G>A
ENST00000684633.1:n.410G>A
ENST00000684678.1:c.434G>A	ENSP00000507059.1:n.434G>A
ENST00000369842.9:c.438G>A MANE Select	ENSP00000358857.4:p.Glu146=
ENST00000369835.3:c.333G>A	ENSP00000358850.3:p.Glu111=
ENST00000369842.8:c.438G>A	ENSP00000358857.4:p.Glu146=
ENST00000428228.5:c.*343G>A	ENSP00000401081.1:n.*343G>A
ENST00000468294.5:n.398G>A
ENST00000471965.1:n.227G>A
ENST00000485261.1:n.628G>A
ENST00000486738.5:n.796G>A
ENST00000492448.1:n.421G>A
NM_000117.2:c.438G>A , LRG_745t1:c.438G>A	NP_000108.1:p.Glu146=
XM_024452349.1:c.444G>A	XP_024308117.1:p.Glu148=
NM_000117.3:c.438G>A MANE Select	NP_000108.1:p.Glu146=