Canonical Allele Identifier: CA415258268

Gene: EMD

Linked Data

• ClinVar Variation Id: 462824
• ClinVar RCV Id: RCV000557820 ; RCV000723516
• dbSNP Id: rs1557182560
• MyVariant Identifiers: chrX:g.153609143G>T (hg19) ; chrX:g.154380783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380783G>T , CM000685.2:g.154380783G>T	GRCh38
NC_000023.10:g.153609143G>T , CM000685.1:g.153609143G>T	GRCh37
NC_000023.9:g.153262337G>T	NCBI36
NG_008677.1:g.11348G>T , LRG_745:g.11348G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.430G>T	ENSP00000507245.1:p.Glu144Ter
ENST00000682478.1:n.620G>T
ENST00000683576.1:n.620G>T
ENST00000683627.1:c.430G>T	ENSP00000507533.1:p.Glu144Ter
ENST00000684082.1:c.387G>T	ENSP00000508266.1:n.387G>T
ENST00000684633.1:n.402G>T
ENST00000684678.1:c.426G>T	ENSP00000507059.1:n.426G>T
ENST00000369842.9:c.430G>T MANE Select	ENSP00000358857.4:p.Glu144Ter
ENST00000369835.3:c.325G>T	ENSP00000358850.3:p.Glu109Ter
ENST00000369842.8:c.430G>T	ENSP00000358857.4:p.Glu144Ter
ENST00000428228.5:c.*335G>T	ENSP00000401081.1:n.*335G>T
ENST00000468294.5:n.390G>T
ENST00000471965.1:n.219G>T
ENST00000485261.1:n.620G>T
ENST00000486738.5:n.788G>T
ENST00000492448.1:n.413G>T
NM_000117.2:c.430G>T , LRG_745t1:c.430G>T	NP_000108.1:p.Glu144Ter
XM_024452349.1:c.436G>T	XP_024308117.1:p.Glu146Ter
NM_000117.3:c.430G>T MANE Select	NP_000108.1:p.Glu144Ter