Canonical Allele Identifier: CA519710041

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609350C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380990C>G , CM000685.2:g.154380990C>G	GRCh38
NC_000023.10:g.153609350C>G , CM000685.1:g.153609350C>G	GRCh37
NC_000023.9:g.153262544C>G	NCBI36
NG_008677.1:g.11555C>G , LRG_745:g.11555C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.558C>G	ENSP00000507245.1:p.Ser186=
ENST00000682478.1:n.748C>G
ENST00000683576.1:n.748C>G
ENST00000683627.1:c.558C>G	ENSP00000507533.1:p.Ser186=
ENST00000684082.1:c.515C>G	ENSP00000508266.1:n.515C>G
ENST00000684633.1:n.530C>G
ENST00000684678.1:c.554C>G	ENSP00000507059.1:n.554C>G
ENST00000369842.9:c.558C>G MANE Select	ENSP00000358857.4:p.Ser186=
ENST00000369835.3:c.453C>G	ENSP00000358850.3:p.Ser151=
ENST00000369842.8:c.558C>G	ENSP00000358857.4:p.Ser186=
ENST00000428228.5:c.*463C>G	ENSP00000401081.1:n.*463C>G
ENST00000471965.1:n.347C>G
ENST00000486738.5:n.995C>G
ENST00000492448.1:n.541C>G
NM_000117.2:c.558C>G , LRG_745t1:c.558C>G	NP_000108.1:p.Ser186=
XM_024452349.1:c.564C>G	XP_024308117.1:p.Ser188=
NM_000117.3:c.558C>G MANE Select	NP_000108.1:p.Ser186=