Canonical Allele Identifier: CA273149

Gene: EMD

Linked Data

• ClinVar Variation Id: 163403
• ClinVar RCV Id: RCV000150647 ; RCV000727586 ; RCV001280616
• dbSNP Id: rs727503036
• MyVariant Identifiers: chrX:g.153608592A>G (hg19) ; chrX:g.154380232A>G (hg38)
• PubMed: PMID:1178008 ; PMID:1998333 ; PMID:7294729 ; PMID:8595407 ; PMID:10382909 ; PMID:10428430

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380232A>G , CM000685.2:g.154380232A>G	GRCh38
NC_000023.10:g.153608592A>G , CM000685.1:g.153608592A>G	GRCh37
NC_000023.9:g.153261786A>G	NCBI36
NG_008677.1:g.10797A>G , LRG_745:g.10797A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.266-2A>G	ENSP00000507245.1:n.266-2A>G
ENST00000682478.1:n.454A>G
ENST00000683576.1:n.454A>G
ENST00000683627.1:c.266-2A>G	ENSP00000507533.1:n.266-2A>G
ENST00000684082.1:c.266-45A>G	ENSP00000508266.1:n.266-45A>G
ENST00000684633.1:n.238-2A>G
ENST00000684678.1:c.262-2A>G	ENSP00000507059.1:n.262-2A>G
ENST00000369842.9:c.266-2A>G MANE Select	ENSP00000358857.4:n.266-2A>G
ENST00000369835.3:c.161-2A>G	ENSP00000358850.3:n.161-2A>G
ENST00000369842.8:c.266-2A>G	ENSP00000358857.4:n.266-2A>G
ENST00000428228.5:c.*171-2A>G	ENSP00000401081.1:n.*171-2A>G
ENST00000468294.5:n.226-2A>G
ENST00000485261.1:n.454A>G
ENST00000486738.5:n.622A>G
ENST00000492448.1:n.249-2A>G
ENST00000494443.5:n.535A>G
NM_000117.2:c.266-2A>G , LRG_745t1:c.266-2A>G	NP_000108.1:n.266-2A>G
XM_024452349.1:c.270A>G	XP_024308117.1:p.Gln90=
NM_000117.3:c.266-2A>G MANE Select	NP_000108.1:n.266-2A>G