Canonical Allele Identifier: CA335177

Gene: EMD

Linked Data

• ClinVar Variation Id: 201783
• ClinVar RCV Id: RCV000726925 ; RCV001827990 ; RCV002415780 ; RCV001420800 ; RCV001852357
• dbSNP Id: rs794729021
• gnomAD v2: X-153608329-A-T
• gnomAD v4: X-154379969-A-T
• MyVariant Identifiers: chrX:g.153608329A>T (hg19) ; chrX:g.154379969A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379969A>T , CM000685.2:g.154379969A>T	GRCh38
NC_000023.10:g.153608329A>T , CM000685.1:g.153608329A>T	GRCh37
NC_000023.9:g.153261523A>T	NCBI36
NG_008677.1:g.10534A>T , LRG_745:g.10534A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.215A>T	ENSP00000507245.1:p.Asp72Val
ENST00000682478.1:n.191A>T
ENST00000683576.1:n.191A>T
ENST00000683627.1:c.215A>T	ENSP00000507533.1:p.Asp72Val
ENST00000684082.1:c.215A>T	ENSP00000508266.1:p.Asp72Val
ENST00000684633.1:n.187A>T
ENST00000684678.1:c.211A>T	ENSP00000507059.1:n.211A>T
ENST00000369842.9:c.215A>T MANE Select	ENSP00000358857.4:p.Asp72Val
ENST00000369835.3:c.110A>T	ENSP00000358850.3:p.Asp37Val
ENST00000369842.8:c.215A>T	ENSP00000358857.4:p.Asp72Val
ENST00000428228.5:c.*120A>T	ENSP00000401081.1:n.*120A>T
ENST00000468294.5:n.175A>T
ENST00000485261.1:n.191A>T
ENST00000486738.5:n.359A>T
ENST00000492448.1:n.198A>T
ENST00000494443.5:n.272A>T
NM_000117.2:c.215A>T , LRG_745t1:c.215A>T	NP_000108.1:p.Asp72Val
XM_024452349.1:c.7A>T	XP_024308117.1:p.Ile3Leu
NM_000117.3:c.215A>T MANE Select	NP_000108.1:p.Asp72Val