Canonical Allele Identifier: CA415258291

Gene: EMD

Linked Data

• COSMIC: COSM6427075
• MyVariant Identifiers: chrX:g.153609147A>G (hg19) ; chrX:g.154380787A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380787A>G , CM000685.2:g.154380787A>G	GRCh38
NC_000023.10:g.153609147A>G , CM000685.1:g.153609147A>G	GRCh37
NC_000023.9:g.153262341A>G	NCBI36
NG_008677.1:g.11352A>G , LRG_745:g.11352A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.434A>G	ENSP00000507245.1:p.Glu145Gly
ENST00000682478.1:n.624A>G
ENST00000683576.1:n.624A>G
ENST00000683627.1:c.434A>G	ENSP00000507533.1:p.Glu145Gly
ENST00000684082.1:c.391A>G	ENSP00000508266.1:n.391A>G
ENST00000684633.1:n.406A>G
ENST00000684678.1:c.430A>G	ENSP00000507059.1:n.430A>G
ENST00000369842.9:c.434A>G MANE Select	ENSP00000358857.4:p.Glu145Gly
ENST00000369835.3:c.329A>G	ENSP00000358850.3:p.Glu110Gly
ENST00000369842.8:c.434A>G	ENSP00000358857.4:p.Glu145Gly
ENST00000428228.5:c.*339A>G	ENSP00000401081.1:n.*339A>G
ENST00000468294.5:n.394A>G
ENST00000471965.1:n.223A>G
ENST00000485261.1:n.624A>G
ENST00000486738.5:n.792A>G
ENST00000492448.1:n.417A>G
NM_000117.2:c.434A>G , LRG_745t1:c.434A>G	NP_000108.1:p.Glu145Gly
XM_024452349.1:c.440A>G	XP_024308117.1:p.Glu147Gly
NM_000117.3:c.434A>G MANE Select	NP_000108.1:p.Glu145Gly