Canonical Allele Identifier: CA415258182

Gene: EMD

Linked Data

• ClinVar Variation Id: 3230340
• ClinVar RCV Id: RCV004520491
• MyVariant Identifiers: chrX:g.153609123A>G (hg19) ; chrX:g.154380763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380763A>G , CM000685.2:g.154380763A>G	GRCh38
NC_000023.10:g.153609123A>G , CM000685.1:g.153609123A>G	GRCh37
NC_000023.9:g.153262317A>G	NCBI36
NG_008677.1:g.11328A>G , LRG_745:g.11328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.410A>G	ENSP00000507245.1:p.Asp137Gly
ENST00000682478.1:n.600A>G
ENST00000683576.1:n.600A>G
ENST00000683627.1:c.410A>G	ENSP00000507533.1:p.Asp137Gly
ENST00000684082.1:c.367A>G	ENSP00000508266.1:n.367A>G
ENST00000684633.1:n.382A>G
ENST00000684678.1:c.406A>G	ENSP00000507059.1:n.406A>G
ENST00000369842.9:c.410A>G MANE Select	ENSP00000358857.4:p.Asp137Gly
ENST00000369835.3:c.305A>G	ENSP00000358850.3:p.Asp102Gly
ENST00000369842.8:c.410A>G	ENSP00000358857.4:p.Asp137Gly
ENST00000428228.5:c.*315A>G	ENSP00000401081.1:n.*315A>G
ENST00000468294.5:n.370A>G
ENST00000471965.1:n.199A>G
ENST00000485261.1:n.600A>G
ENST00000486738.5:n.768A>G
ENST00000492448.1:n.393A>G
NM_000117.2:c.410A>G , LRG_745t1:c.410A>G	NP_000108.1:p.Asp137Gly
XM_024452349.1:c.416A>G	XP_024308117.1:p.Asp139Gly
NM_000117.3:c.410A>G MANE Select	NP_000108.1:p.Asp137Gly