Canonical Allele Identifier: CA415258179

Gene: EMD

Linked Data

• gnomAD v4: X-154380762-G-A
• MyVariant Identifiers: chrX:g.153609122G>A (hg19) ; chrX:g.154380762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380762G>A , CM000685.2:g.154380762G>A	GRCh38
NC_000023.10:g.153609122G>A , CM000685.1:g.153609122G>A	GRCh37
NC_000023.9:g.153262316G>A	NCBI36
NG_008677.1:g.11327G>A , LRG_745:g.11327G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.409G>A	ENSP00000507245.1:p.Asp137Asn
ENST00000682478.1:n.599G>A
ENST00000683576.1:n.599G>A
ENST00000683627.1:c.409G>A	ENSP00000507533.1:p.Asp137Asn
ENST00000684082.1:c.366G>A	ENSP00000508266.1:n.366G>A
ENST00000684633.1:n.381G>A
ENST00000684678.1:c.405G>A	ENSP00000507059.1:n.405G>A
ENST00000369842.9:c.409G>A MANE Select	ENSP00000358857.4:p.Asp137Asn
ENST00000369835.3:c.304G>A	ENSP00000358850.3:p.Asp102Asn
ENST00000369842.8:c.409G>A	ENSP00000358857.4:p.Asp137Asn
ENST00000428228.5:c.*314G>A	ENSP00000401081.1:n.*314G>A
ENST00000468294.5:n.369G>A
ENST00000471965.1:n.198G>A
ENST00000485261.1:n.599G>A
ENST00000486738.5:n.767G>A
ENST00000492448.1:n.392G>A
NM_000117.2:c.409G>A , LRG_745t1:c.409G>A	NP_000108.1:p.Asp137Asn
XM_024452349.1:c.415G>A	XP_024308117.1:p.Asp139Asn
NM_000117.3:c.409G>A MANE Select	NP_000108.1:p.Asp137Asn