Canonical Allele Identifier: CA415259034

Gene: EMD

Linked Data

• ClinVar Variation Id: 1315219
• ClinVar RCV Id: RCV001773413 ; RCV002506800
• dbSNP Id: rs782352489
• gnomAD v2: X-153609412-G-A
• gnomAD v3: X-154381052-G-A
• gnomAD v4: X-154381052-G-A
• MyVariant Identifiers: chrX:g.153609412G>A (hg19) ; chrX:g.154381052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381052G>A , CM000685.2:g.154381052G>A	GRCh38
NC_000023.10:g.153609412G>A , CM000685.1:g.153609412G>A	GRCh37
NC_000023.9:g.153262606G>A	NCBI36
NG_008677.1:g.11617G>A , LRG_745:g.11617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+48G>A	ENSP00000507245.1:n.572+48G>A
ENST00000682478.1:n.762+48G>A
ENST00000683576.1:n.810G>A
ENST00000683627.1:c.620G>A	ENSP00000507533.1:p.Arg207Gln
ENST00000684082.1:c.577G>A	ENSP00000508266.1:n.577G>A
ENST00000684633.1:n.592G>A
ENST00000684678.1:c.568+48G>A	ENSP00000507059.1:n.568+48G>A
ENST00000369842.9:c.620G>A MANE Select	ENSP00000358857.4:p.Arg207Gln
ENST00000369835.3:c.515G>A	ENSP00000358850.3:p.Arg172Gln
ENST00000369842.8:c.620G>A	ENSP00000358857.4:p.Arg207Gln
ENST00000428228.5:c.*525G>A	ENSP00000401081.1:n.*525G>A
ENST00000471965.1:n.409G>A
ENST00000486738.5:n.1057G>A
ENST00000492448.1:n.603G>A
NM_000117.2:c.620G>A , LRG_745t1:c.620G>A	NP_000108.1:p.Arg207Gln
XM_024452349.1:c.626G>A	XP_024308117.1:p.Arg209Gln
NM_000117.3:c.620G>A MANE Select	NP_000108.1:p.Arg207Gln