Canonical Allele Identifier: CA415258357

Gene: EMD

Linked Data

• ClinVar Variation Id: 462825
• ClinVar RCV Id: RCV000534154
• dbSNP Id: rs1557182571
• MyVariant Identifiers: chrX:g.153609162G>C (hg19) ; chrX:g.154380802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380802G>C , CM000685.2:g.154380802G>C	GRCh38
NC_000023.10:g.153609162G>C , CM000685.1:g.153609162G>C	GRCh37
NC_000023.9:g.153262356G>C	NCBI36
NG_008677.1:g.11367G>C , LRG_745:g.11367G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.449G>C	ENSP00000507245.1:p.Arg150Thr
ENST00000682478.1:n.639G>C
ENST00000683576.1:n.639G>C
ENST00000683627.1:c.449G>C	ENSP00000507533.1:p.Arg150Thr
ENST00000684082.1:c.406G>C	ENSP00000508266.1:n.406G>C
ENST00000684633.1:n.421G>C
ENST00000684678.1:c.445G>C	ENSP00000507059.1:n.445G>C
ENST00000369842.9:c.449G>C MANE Select	ENSP00000358857.4:p.Arg150Thr
ENST00000369835.3:c.344G>C	ENSP00000358850.3:p.Arg115Thr
ENST00000369842.8:c.449G>C	ENSP00000358857.4:p.Arg150Thr
ENST00000428228.5:c.*354G>C	ENSP00000401081.1:n.*354G>C
ENST00000468294.5:n.409G>C
ENST00000471965.1:n.238G>C
ENST00000485261.1:n.639G>C
ENST00000486738.5:n.807G>C
ENST00000492448.1:n.432G>C
NM_000117.2:c.449G>C , LRG_745t1:c.449G>C	NP_000108.1:p.Arg150Thr
XM_024452349.1:c.455G>C	XP_024308117.1:p.Arg152Thr
NM_000117.3:c.449G>C MANE Select	NP_000108.1:p.Arg150Thr