Canonical Allele Identifier: CA337289378

Gene: EMD

Linked Data

• ClinVar Variation Id: 949967
• ClinVar RCV Id: RCV001221567
• dbSNP Id: rs782066603
• MyVariant Identifiers: chrX:g.153608306G>C (hg19) ; chrX:g.154379946G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379946G>C , CM000685.2:g.154379946G>C	GRCh38
NC_000023.10:g.153608306G>C , CM000685.1:g.153608306G>C	GRCh37
NC_000023.9:g.153261500G>C	NCBI36
NG_008677.1:g.10511G>C , LRG_745:g.10511G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.192G>C	ENSP00000507245.1:p.Leu64Phe
ENST00000682478.1:n.168G>C
ENST00000683576.1:n.168G>C
ENST00000683627.1:c.192G>C	ENSP00000507533.1:p.Leu64Phe
ENST00000684082.1:c.192G>C	ENSP00000508266.1:p.Leu64Phe
ENST00000684633.1:n.164G>C
ENST00000684678.1:c.188G>C	ENSP00000507059.1:p.Ter63Ser
ENST00000369842.9:c.192G>C MANE Select	ENSP00000358857.4:p.Leu64Phe
ENST00000369835.3:c.87G>C	ENSP00000358850.3:p.Leu29Phe
ENST00000369842.8:c.192G>C	ENSP00000358857.4:p.Leu64Phe
ENST00000428228.5:c.*97G>C	ENSP00000401081.1:n.*97G>C
ENST00000468294.5:n.152G>C
ENST00000485261.1:n.168G>C
ENST00000486738.5:n.336G>C
ENST00000492448.1:n.175G>C
ENST00000494443.5:n.249G>C
NM_000117.2:c.192G>C , LRG_745t1:c.192G>C	NP_000108.1:p.Leu64Phe
XM_024452349.1:c.-17G>C	XP_024308117.1:n.-17G>C
NM_000117.3:c.192G>C MANE Select	NP_000108.1:p.Leu64Phe