Canonical Allele Identifier: CA415258729

Gene: EMD

Linked Data

• ClinVar Variation Id: 2158876
• ClinVar RCV Id: RCV003079942 ; RCV004071887
• dbSNP Id: rs1430510939
• gnomAD v2: X-153609326-C-A
• gnomAD v3: X-154380966-C-A
• gnomAD v4: X-154380966-C-A
• MyVariant Identifiers: chrX:g.153609326C>A (hg19) ; chrX:g.154380966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380966C>A , CM000685.2:g.154380966C>A	GRCh38
NC_000023.10:g.153609326C>A , CM000685.1:g.153609326C>A	GRCh37
NC_000023.9:g.153262520C>A	NCBI36
NG_008677.1:g.11531C>A , LRG_745:g.11531C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.534C>A	ENSP00000507245.1:p.Asp178Glu
ENST00000682478.1:n.724C>A
ENST00000683576.1:n.724C>A
ENST00000683627.1:c.534C>A	ENSP00000507533.1:p.Asp178Glu
ENST00000684082.1:c.491C>A	ENSP00000508266.1:n.491C>A
ENST00000684633.1:n.506C>A
ENST00000684678.1:c.530C>A	ENSP00000507059.1:n.530C>A
ENST00000369842.9:c.534C>A MANE Select	ENSP00000358857.4:p.Asp178Glu
ENST00000369835.3:c.429C>A	ENSP00000358850.3:p.Asp143Glu
ENST00000369842.8:c.534C>A	ENSP00000358857.4:p.Asp178Glu
ENST00000428228.5:c.*439C>A	ENSP00000401081.1:n.*439C>A
ENST00000471965.1:n.323C>A
ENST00000486738.5:n.971C>A
ENST00000492448.1:n.517C>A
NM_000117.2:c.534C>A , LRG_745t1:c.534C>A	NP_000108.1:p.Asp178Glu
XM_024452349.1:c.540C>A	XP_024308117.1:p.Asp180Glu
NM_000117.3:c.534C>A MANE Select	NP_000108.1:p.Asp178Glu