Canonical Allele Identifier: CA415257191

Gene: EMD

Linked Data

• ClinVar Variation Id: 1351390
• ClinVar RCV Id: RCV002044690
• dbSNP Id: rs1064797380
• MyVariant Identifiers: chrX:g.153607926G>C (hg19) ; chrX:g.154379566G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379566G>C , CM000685.2:g.154379566G>C	GRCh38
NC_000023.10:g.153607926G>C , CM000685.1:g.153607926G>C	GRCh37
NC_000023.9:g.153261120G>C	NCBI36
NG_008677.1:g.10131G>C , LRG_745:g.10131G>C
NG_011506.1:g.81C>G
NG_011506.2:g.73C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.82G>C	ENSP00000507245.1:p.Gly28Arg
ENST00000682478.1:n.58G>C
ENST00000683576.1:n.58G>C
ENST00000683627.1:c.82G>C	ENSP00000507533.1:p.Gly28Arg
ENST00000684082.1:c.82G>C	ENSP00000508266.1:p.Gly28Arg
ENST00000684633.1:n.54+4G>C
ENST00000684678.1:c.78+4G>C	ENSP00000507059.1:n.78+4G>C
ENST00000369842.9:c.82G>C MANE Select	ENSP00000358857.4:p.Gly28Arg
ENST00000369835.3:c.82G>C	ENSP00000358850.3:p.Asp28His
ENST00000369842.8:c.82G>C	ENSP00000358857.4:p.Gly28Arg
ENST00000428228.5:c.53+29G>C	ENSP00000401081.1:n.53+29G>C
ENST00000468294.5:n.42G>C
ENST00000485261.1:n.163G>C
ENST00000486738.5:n.226G>C
ENST00000494443.5:n.139G>C
NM_000117.2:c.82G>C , LRG_745t1:c.82G>C	NP_000108.1:p.Gly28Arg
XM_024452349.1:c.-127G>C	XP_024308117.1:n.-127G>C
NM_000117.3:c.82G>C MANE Select	NP_000108.1:p.Gly28Arg