Canonical Allele Identifier: CA220368

Gene: EMD

Linked Data

• ClinVar Variation Id: 92441
• ClinVar RCV Id: RCV000078132 ; RCV000816244 ; RCV003492432
• dbSNP Id: rs398123158
• MyVariant Identifiers: chrX:g.153609240A>G (hg19) ; chrX:g.154380880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380880A>G , CM000685.2:g.154380880A>G	GRCh38
NC_000023.10:g.153609240A>G , CM000685.1:g.153609240A>G	GRCh37
NC_000023.9:g.153262434A>G	NCBI36
NG_008677.1:g.11445A>G , LRG_745:g.11445A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.450-2A>G	ENSP00000507245.1:n.450-2A>G
ENST00000682478.1:n.640-2A>G
ENST00000683576.1:n.640-2A>G
ENST00000683627.1:c.450-2A>G	ENSP00000507533.1:n.450-2A>G
ENST00000684082.1:c.407-2A>G	ENSP00000508266.1:n.407-2A>G
ENST00000684633.1:n.422-2A>G
ENST00000684678.1:c.446-2A>G	ENSP00000507059.1:n.446-2A>G
ENST00000369842.9:c.450-2A>G MANE Select	ENSP00000358857.4:n.450-2A>G
ENST00000369835.3:c.345-2A>G	ENSP00000358850.3:n.345-2A>G
ENST00000369842.8:c.450-2A>G	ENSP00000358857.4:n.450-2A>G
ENST00000428228.5:c.*355-2A>G	ENSP00000401081.1:n.*355-2A>G
ENST00000468294.5:n.487A>G
ENST00000471965.1:n.239-2A>G
ENST00000485261.1:n.717A>G
ENST00000486738.5:n.885A>G
ENST00000492448.1:n.433-2A>G
NM_000117.2:c.450-2A>G , LRG_745t1:c.450-2A>G	NP_000108.1:n.450-2A>G
XM_024452349.1:c.456-2A>G	XP_024308117.1:n.456-2A>G
NM_000117.3:c.450-2A>G MANE Select	NP_000108.1:n.450-2A>G