Canonical Allele Identifier: CA519710045

Gene: EMD

Linked Data

• ClinVar Variation Id: 2833529
• ClinVar RCV Id: RCV003640010
• MyVariant Identifiers: chrX:g.153609353C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380993C>T , CM000685.2:g.154380993C>T	GRCh38
NC_000023.10:g.153609353C>T , CM000685.1:g.153609353C>T	GRCh37
NC_000023.9:g.153262547C>T	NCBI36
NG_008677.1:g.11558C>T , LRG_745:g.11558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.561C>T	ENSP00000507245.1:p.Ser187=
ENST00000682478.1:n.751C>T
ENST00000683576.1:n.751C>T
ENST00000683627.1:c.561C>T	ENSP00000507533.1:p.Ser187=
ENST00000684082.1:c.518C>T	ENSP00000508266.1:n.518C>T
ENST00000684633.1:n.533C>T
ENST00000684678.1:c.557C>T	ENSP00000507059.1:n.557C>T
ENST00000369842.9:c.561C>T MANE Select	ENSP00000358857.4:p.Ser187=
ENST00000369835.3:c.456C>T	ENSP00000358850.3:p.Ser152=
ENST00000369842.8:c.561C>T	ENSP00000358857.4:p.Ser187=
ENST00000428228.5:c.*466C>T	ENSP00000401081.1:n.*466C>T
ENST00000471965.1:n.350C>T
ENST00000486738.5:n.998C>T
ENST00000492448.1:n.544C>T
NM_000117.2:c.561C>T , LRG_745t1:c.561C>T	NP_000108.1:p.Ser187=
XM_024452349.1:c.567C>T	XP_024308117.1:p.Ser189=
NM_000117.3:c.561C>T MANE Select	NP_000108.1:p.Ser187=