Canonical Allele Identifier: CA415257772

Gene: EMD

Linked Data

• ClinVar Variation Id: 684827
• ClinVar RCV Id: RCV000845433
• dbSNP Id: rs1603365762
• MyVariant Identifiers: chrX:g.153608381T>A (hg19) ; chrX:g.154380021T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380021T>A , CM000685.2:g.154380021T>A	GRCh38
NC_000023.10:g.153608381T>A , CM000685.1:g.153608381T>A	GRCh37
NC_000023.9:g.153261575T>A	NCBI36
NG_008677.1:g.10586T>A , LRG_745:g.10586T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+2T>A	ENSP00000507245.1:n.265+2T>A
ENST00000682478.1:n.243T>A
ENST00000683576.1:n.243T>A
ENST00000683627.1:c.265+2T>A	ENSP00000507533.1:n.265+2T>A
ENST00000684082.1:c.265+2T>A	ENSP00000508266.1:n.265+2T>A
ENST00000684633.1:n.237+2T>A
ENST00000684678.1:c.261+2T>A	ENSP00000507059.1:n.261+2T>A
ENST00000369842.9:c.265+2T>A MANE Select	ENSP00000358857.4:n.265+2T>A
ENST00000369835.3:c.160+2T>A	ENSP00000358850.3:n.160+2T>A
ENST00000369842.8:c.265+2T>A	ENSP00000358857.4:n.265+2T>A
ENST00000428228.5:c.*170+2T>A	ENSP00000401081.1:n.*170+2T>A
ENST00000468294.5:n.225+2T>A
ENST00000485261.1:n.243T>A
ENST00000486738.5:n.411T>A
ENST00000492448.1:n.248+2T>A
ENST00000494443.5:n.324T>A
NM_000117.2:c.265+2T>A , LRG_745t1:c.265+2T>A	NP_000108.1:n.265+2T>A
XM_024452349.1:c.59T>A	XP_024308117.1:p.Val20Glu
NM_000117.3:c.265+2T>A MANE Select	NP_000108.1:n.265+2T>A