Canonical Allele Identifier: CA10561647

Gene: EMD

Linked Data

• ClinVar Variation Id: 462827
• ClinVar RCV Id: RCV000618581 ; RCV000762691 ; RCV000551537 ; RCV001829576
• dbSNP Id: rs782642152
• ExAC: X:153609403 G / A
• gnomAD v2: X-153609403-G-A
• gnomAD v3: X-154381043-G-A
• gnomAD v4: X-154381043-G-A
• MyVariant Identifiers: chrX:g.153609403G>A (hg19) ; chrX:g.154381043G>A (hg38)
• PubMed: PMID:23395478

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381043G>A , CM000685.2:g.154381043G>A	GRCh38
NC_000023.10:g.153609403G>A , CM000685.1:g.153609403G>A	GRCh37
NC_000023.9:g.153262597G>A	NCBI36
NG_008677.1:g.11608G>A , LRG_745:g.11608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+39G>A	ENSP00000507245.1:n.572+39G>A
ENST00000682478.1:n.762+39G>A
ENST00000683576.1:n.801G>A
ENST00000683627.1:c.611G>A	ENSP00000507533.1:p.Arg204His
ENST00000684082.1:c.568G>A	ENSP00000508266.1:n.568G>A
ENST00000684633.1:n.583G>A
ENST00000684678.1:c.568+39G>A	ENSP00000507059.1:n.568+39G>A
ENST00000369842.9:c.611G>A MANE Select	ENSP00000358857.4:p.Arg204His
ENST00000369835.3:c.506G>A	ENSP00000358850.3:p.Arg169His
ENST00000369842.8:c.611G>A	ENSP00000358857.4:p.Arg204His
ENST00000428228.5:c.*516G>A	ENSP00000401081.1:n.*516G>A
ENST00000471965.1:n.400G>A
ENST00000486738.5:n.1048G>A
ENST00000492448.1:n.594G>A
NM_000117.2:c.611G>A , LRG_745t1:c.611G>A	NP_000108.1:p.Arg204His
XM_024452349.1:c.617G>A	XP_024308117.1:p.Arg206His
NM_000117.3:c.611G>A MANE Select	NP_000108.1:p.Arg204His