Canonical Allele Identifier: CA415258305

Gene: EMD

Linked Data

• ClinVar Variation Id: 1373752
• ClinVar RCV Id: RCV001877475
• dbSNP Id: rs2148128747
• MyVariant Identifiers: chrX:g.153609150A>G (hg19) ; chrX:g.154380790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380790A>G , CM000685.2:g.154380790A>G	GRCh38
NC_000023.10:g.153609150A>G , CM000685.1:g.153609150A>G	GRCh37
NC_000023.9:g.153262344A>G	NCBI36
NG_008677.1:g.11355A>G , LRG_745:g.11355A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.437A>G	ENSP00000507245.1:p.Glu146Gly
ENST00000682478.1:n.627A>G
ENST00000683576.1:n.627A>G
ENST00000683627.1:c.437A>G	ENSP00000507533.1:p.Glu146Gly
ENST00000684082.1:c.394A>G	ENSP00000508266.1:n.394A>G
ENST00000684633.1:n.409A>G
ENST00000684678.1:c.433A>G	ENSP00000507059.1:n.433A>G
ENST00000369842.9:c.437A>G MANE Select	ENSP00000358857.4:p.Glu146Gly
ENST00000369835.3:c.332A>G	ENSP00000358850.3:p.Glu111Gly
ENST00000369842.8:c.437A>G	ENSP00000358857.4:p.Glu146Gly
ENST00000428228.5:c.*342A>G	ENSP00000401081.1:n.*342A>G
ENST00000468294.5:n.397A>G
ENST00000471965.1:n.226A>G
ENST00000485261.1:n.627A>G
ENST00000486738.5:n.795A>G
ENST00000492448.1:n.420A>G
NM_000117.2:c.437A>G , LRG_745t1:c.437A>G	NP_000108.1:p.Glu146Gly
XM_024452349.1:c.443A>G	XP_024308117.1:p.Glu148Gly
NM_000117.3:c.437A>G MANE Select	NP_000108.1:p.Glu146Gly