Canonical Allele Identifier: CA415257831

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608614G>A (hg19) ; chrX:g.154380254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380254G>A , CM000685.2:g.154380254G>A	GRCh38
NC_000023.10:g.153608614G>A , CM000685.1:g.153608614G>A	GRCh37
NC_000023.9:g.153261808G>A	NCBI36
NG_008677.1:g.10819G>A , LRG_745:g.10819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.286G>A	ENSP00000507245.1:p.Glu96Lys
ENST00000682478.1:n.476G>A
ENST00000683576.1:n.476G>A
ENST00000683627.1:c.286G>A	ENSP00000507533.1:p.Glu96Lys
ENST00000684082.1:c.266-23G>A	ENSP00000508266.1:n.266-23G>A
ENST00000684633.1:n.258G>A
ENST00000684678.1:c.282G>A	ENSP00000507059.1:n.282G>A
ENST00000369842.9:c.286G>A MANE Select	ENSP00000358857.4:p.Glu96Lys
ENST00000369835.3:c.181G>A	ENSP00000358850.3:p.Glu61Lys
ENST00000369842.8:c.286G>A	ENSP00000358857.4:p.Glu96Lys
ENST00000428228.5:c.*191G>A	ENSP00000401081.1:n.*191G>A
ENST00000468294.5:n.246G>A
ENST00000485261.1:n.476G>A
ENST00000486738.5:n.644G>A
ENST00000492448.1:n.269G>A
ENST00000494443.5:n.557G>A
NM_000117.2:c.286G>A , LRG_745t1:c.286G>A	NP_000108.1:p.Glu96Lys
XM_024452349.1:c.292G>A	XP_024308117.1:p.Glu98Lys
NM_000117.3:c.286G>A MANE Select	NP_000108.1:p.Glu96Lys