Canonical Allele Identifier: CA519710113

Gene: EMD

Linked Data

• ClinVar Variation Id: 955640
• ClinVar RCV Id: RCV001228320 ; RCV001833972
• dbSNP Id: rs2067885915
• MyVariant Identifiers: chrX:g.153609443G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381083G>A , CM000685.2:g.154381083G>A	GRCh38
NC_000023.10:g.153609443G>A , CM000685.1:g.153609443G>A	GRCh37
NC_000023.9:g.153262637G>A	NCBI36
NG_008677.1:g.11648G>A , LRG_745:g.11648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+79G>A	ENSP00000507245.1:n.572+79G>A
ENST00000682478.1:n.762+79G>A
ENST00000683576.1:n.841G>A
ENST00000683627.1:c.651G>A	ENSP00000507533.1:p.Leu217=
ENST00000684082.1:c.608G>A	ENSP00000508266.1:n.608G>A
ENST00000684633.1:n.623G>A
ENST00000684678.1:c.568+79G>A	ENSP00000507059.1:n.568+79G>A
ENST00000369842.9:c.651G>A MANE Select	ENSP00000358857.4:p.Leu217=
ENST00000369835.3:c.546G>A	ENSP00000358850.3:p.Leu182=
ENST00000369842.8:c.651G>A	ENSP00000358857.4:p.Leu217=
ENST00000428228.5:c.*556G>A	ENSP00000401081.1:n.*556G>A
ENST00000471965.1:n.440G>A
ENST00000486738.5:n.1088G>A
ENST00000492448.1:n.634G>A
NM_000117.2:c.651G>A , LRG_745t1:c.651G>A	NP_000108.1:p.Leu217=
XM_024452349.1:c.657G>A	XP_024308117.1:p.Leu219=
NM_000117.3:c.651G>A MANE Select	NP_000108.1:p.Leu217=