Canonical Allele Identifier: CA415256924

Gene: EMD

Linked Data

• ClinVar Variation Id: 1060231
• ClinVar RCV Id: RCV001369629
• dbSNP Id: rs2148127965
• gnomAD v4: X-154379515-G-A
• MyVariant Identifiers: chrX:g.153607875G>A (hg19) ; chrX:g.154379515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379515G>A , CM000685.2:g.154379515G>A	GRCh38
NC_000023.10:g.153607875G>A , CM000685.1:g.153607875G>A	GRCh37
NC_000023.9:g.153261069G>A	NCBI36
NG_008677.1:g.10080G>A , LRG_745:g.10080G>A
NG_011506.1:g.132C>T
NG_011506.2:g.124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.31G>A	ENSP00000507245.1:p.Glu11Lys
ENST00000682478.1:n.7G>A
ENST00000683576.1:n.7G>A
ENST00000683627.1:c.31G>A	ENSP00000507533.1:p.Glu11Lys
ENST00000684082.1:c.31G>A	ENSP00000508266.1:p.Glu11Lys
ENST00000684633.1:n.7G>A
ENST00000684678.1:c.31G>A	ENSP00000507059.1:p.Glu11Lys
ENST00000369842.9:c.31G>A MANE Select	ENSP00000358857.4:p.Glu11Lys
ENST00000369835.3:c.31G>A	ENSP00000358850.3:p.Glu11Lys
ENST00000369842.8:c.31G>A	ENSP00000358857.4:p.Glu11Lys
ENST00000428228.5:c.31G>A	ENSP00000401081.1:p.Glu11Lys
ENST00000485261.1:n.112G>A
ENST00000486738.5:n.175G>A
ENST00000494443.5:n.88G>A
NM_000117.2:c.31G>A , LRG_745t1:c.31G>A	NP_000108.1:p.Glu11Lys
XM_024452349.1:c.-178G>A	XP_024308117.1:n.-178G>A
NM_000117.3:c.31G>A MANE Select	NP_000108.1:p.Glu11Lys