Canonical Allele Identifier: CA519710049

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609356C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380996C>G , CM000685.2:g.154380996C>G	GRCh38
NC_000023.10:g.153609356C>G , CM000685.1:g.153609356C>G	GRCh37
NC_000023.9:g.153262550C>G	NCBI36
NG_008677.1:g.11561C>G , LRG_745:g.11561C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.564C>G	ENSP00000507245.1:p.Thr188=
ENST00000682478.1:n.754C>G
ENST00000683576.1:n.754C>G
ENST00000683627.1:c.564C>G	ENSP00000507533.1:p.Thr188=
ENST00000684082.1:c.521C>G	ENSP00000508266.1:n.521C>G
ENST00000684633.1:n.536C>G
ENST00000684678.1:c.560C>G	ENSP00000507059.1:n.560C>G
ENST00000369842.9:c.564C>G MANE Select	ENSP00000358857.4:p.Thr188=
ENST00000369835.3:c.459C>G	ENSP00000358850.3:p.Thr153=
ENST00000369842.8:c.564C>G	ENSP00000358857.4:p.Thr188=
ENST00000428228.5:c.*469C>G	ENSP00000401081.1:n.*469C>G
ENST00000471965.1:n.353C>G
ENST00000486738.5:n.1001C>G
ENST00000492448.1:n.547C>G
NM_000117.2:c.564C>G , LRG_745t1:c.564C>G	NP_000108.1:p.Thr188=
XM_024452349.1:c.570C>G	XP_024308117.1:p.Thr190=
NM_000117.3:c.564C>G MANE Select	NP_000108.1:p.Thr188=