Canonical Allele Identifier: CA415257417

Gene: EMD

Linked Data

• ClinVar Variation Id: 942165
• ClinVar RCV Id: RCV001212098
• dbSNP Id: rs2067875036
• MyVariant Identifiers: chrX:g.153608085G>C (hg19) ; chrX:g.154379725G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379725G>C , CM000685.2:g.154379725G>C	GRCh38
NC_000023.10:g.153608085G>C , CM000685.1:g.153608085G>C	GRCh37
NC_000023.9:g.153261279G>C	NCBI36
NG_008677.1:g.10290G>C , LRG_745:g.10290G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.118G>C	ENSP00000507245.1:p.Glu40Gln
ENST00000682478.1:n.94G>C
ENST00000683576.1:n.94G>C
ENST00000683627.1:c.118G>C	ENSP00000507533.1:p.Glu40Gln
ENST00000684082.1:c.118G>C	ENSP00000508266.1:p.Glu40Gln
ENST00000684633.1:n.90G>C
ENST00000684678.1:c.114G>C	ENSP00000507059.1:p.Ser38=
ENST00000369842.9:c.118G>C MANE Select	ENSP00000358857.4:p.Glu40Gln
ENST00000369835.3:c.82+159G>C	ENSP00000358850.3:n.82+159G>C
ENST00000369842.8:c.118G>C	ENSP00000358857.4:p.Glu40Gln
ENST00000428228.5:c.*23G>C	ENSP00000401081.1:n.*23G>C
ENST00000468294.5:n.78G>C
ENST00000485261.1:n.163+159G>C
ENST00000486738.5:n.262G>C
ENST00000492448.1:n.101G>C
ENST00000494443.5:n.175G>C
NM_000117.2:c.118G>C , LRG_745t1:c.118G>C	NP_000108.1:p.Glu40Gln
XM_024452349.1:c.-91G>C	XP_024308117.1:n.-91G>C
NM_000117.3:c.118G>C MANE Select	NP_000108.1:p.Glu40Gln