Canonical Allele Identifier: CA10561527

Gene: EMD

Linked Data

• ClinVar Variation Id: 2883711
• ClinVar RCV Id: RCV003638383
• dbSNP Id: rs782622770
• ExAC: X:153608174 G / A
• gnomAD v2: X-153608174-G-A
• gnomAD v4: X-154379814-G-A
• MyVariant Identifiers: chrX:g.153608174G>A (hg19) ; chrX:g.154379814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379814G>A , CM000685.2:g.154379814G>A	GRCh38
NC_000023.10:g.153608174G>A , CM000685.1:g.153608174G>A	GRCh37
NC_000023.9:g.153261368G>A	NCBI36
NG_008677.1:g.10379G>A , LRG_745:g.10379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.187+20G>A	ENSP00000507245.1:n.187+20G>A
ENST00000682478.1:n.163+20G>A
ENST00000683576.1:n.163+20G>A
ENST00000683627.1:c.187+20G>A	ENSP00000507533.1:n.187+20G>A
ENST00000684082.1:c.187+20G>A	ENSP00000508266.1:n.187+20G>A
ENST00000684633.1:n.159+20G>A
ENST00000684678.1:c.183+20G>A	ENSP00000507059.1:n.183+20G>A
ENST00000369842.9:c.187+20G>A MANE Select	ENSP00000358857.4:n.187+20G>A
ENST00000369835.3:c.83-128G>A	ENSP00000358850.3:n.83-128G>A
ENST00000369842.8:c.187+20G>A	ENSP00000358857.4:n.187+20G>A
ENST00000428228.5:c.*92+20G>A	ENSP00000401081.1:n.*92+20G>A
ENST00000468294.5:n.147+20G>A
ENST00000485261.1:n.164-128G>A
ENST00000486738.5:n.331+20G>A
ENST00000492448.1:n.170+20G>A
ENST00000494443.5:n.244+20G>A
NM_000117.2:c.187+20G>A , LRG_745t1:c.187+20G>A	NP_000108.1:n.187+20G>A
XM_024452349.1:c.-22+20G>A	XP_024308117.1:n.-22+20G>A
NM_000117.3:c.187+20G>A MANE Select	NP_000108.1:n.187+20G>A