Canonical Allele Identifier: CA176027

Gene: EMD

Linked Data

• ClinVar Variation Id: 163404
• ClinVar RCV Id: RCV000150648 ; RCV000638213 ; RCV001560049 ; RCV001831937 ; RCV002354342
• dbSNP Id: rs374981936
• ExAC: X:153609390 T / C
• gnomAD v2: X-153609390-T-C
• gnomAD v3: X-154381030-T-C
• gnomAD v4: X-154381030-T-C
• MyVariant Identifiers: chrX:g.153609390T>C (hg19) ; chrX:g.154381030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381030T>C , CM000685.2:g.154381030T>C	GRCh38
NC_000023.10:g.153609390T>C , CM000685.1:g.153609390T>C	GRCh37
NC_000023.9:g.153262584T>C	NCBI36
NG_008677.1:g.11595T>C , LRG_745:g.11595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+26T>C	ENSP00000507245.1:n.572+26T>C
ENST00000682478.1:n.762+26T>C
ENST00000683576.1:n.788T>C
ENST00000683627.1:c.598T>C	ENSP00000507533.1:p.Trp200Arg
ENST00000684082.1:c.555T>C	ENSP00000508266.1:n.555T>C
ENST00000684633.1:n.570T>C
ENST00000684678.1:c.568+26T>C	ENSP00000507059.1:n.568+26T>C
ENST00000369842.9:c.598T>C MANE Select	ENSP00000358857.4:p.Trp200Arg
ENST00000369835.3:c.493T>C	ENSP00000358850.3:p.Trp165Arg
ENST00000369842.8:c.598T>C	ENSP00000358857.4:p.Trp200Arg
ENST00000428228.5:c.*503T>C	ENSP00000401081.1:n.*503T>C
ENST00000471965.1:n.387T>C
ENST00000486738.5:n.1035T>C
ENST00000492448.1:n.581T>C
NM_000117.2:c.598T>C , LRG_745t1:c.598T>C	NP_000108.1:p.Trp200Arg
XM_024452349.1:c.604T>C	XP_024308117.1:p.Trp202Arg
NM_000117.3:c.598T>C MANE Select	NP_000108.1:p.Trp200Arg