Canonical Allele Identifier: CA415257262

Gene: EMD

Linked Data

• ClinVar Variation Id: 531735
• ClinVar RCV Id: RCV000638220
• dbSNP Id: rs781978021
• MyVariant Identifiers: chrX:g.153608050G>A (hg19) ; chrX:g.154379690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379690G>A , CM000685.2:g.154379690G>A	GRCh38
NC_000023.10:g.153608050G>A , CM000685.1:g.153608050G>A	GRCh37
NC_000023.9:g.153261244G>A	NCBI36
NG_008677.1:g.10255G>A , LRG_745:g.10255G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.83G>A	ENSP00000507245.1:p.Gly28Glu
ENST00000682478.1:n.59G>A
ENST00000683576.1:n.59G>A
ENST00000683627.1:c.83G>A	ENSP00000507533.1:p.Gly28Glu
ENST00000684082.1:c.83G>A	ENSP00000508266.1:p.Gly28Glu
ENST00000684633.1:n.55G>A
ENST00000684678.1:c.79G>A	ENSP00000507059.1:p.Asp27Asn
ENST00000369842.9:c.83G>A MANE Select	ENSP00000358857.4:p.Gly28Glu
ENST00000369835.3:c.82+124G>A	ENSP00000358850.3:n.82+124G>A
ENST00000369842.8:c.83G>A	ENSP00000358857.4:p.Gly28Glu
ENST00000428228.5:c.54G>A	ENSP00000401081.1:p.Arg18=
ENST00000468294.5:n.43G>A
ENST00000485261.1:n.163+124G>A
ENST00000486738.5:n.227G>A
ENST00000492448.1:n.66G>A
ENST00000494443.5:n.140G>A
NM_000117.2:c.83G>A , LRG_745t1:c.83G>A	NP_000108.1:p.Gly28Glu
XM_024452349.1:c.-126G>A	XP_024308117.1:n.-126G>A
NM_000117.3:c.83G>A MANE Select	NP_000108.1:p.Gly28Glu