Canonical Allele Identifier: CA415258417

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609246C>G (hg19) ; chrX:g.154380886C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380886C>G , CM000685.2:g.154380886C>G	GRCh38
NC_000023.10:g.153609246C>G , CM000685.1:g.153609246C>G	GRCh37
NC_000023.9:g.153262440C>G	NCBI36
NG_008677.1:g.11451C>G , LRG_745:g.11451C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.454C>G	ENSP00000507245.1:p.Arg152Gly
ENST00000682478.1:n.644C>G
ENST00000683576.1:n.644C>G
ENST00000683627.1:c.454C>G	ENSP00000507533.1:p.Arg152Gly
ENST00000684082.1:c.411C>G	ENSP00000508266.1:n.411C>G
ENST00000684633.1:n.426C>G
ENST00000684678.1:c.450C>G	ENSP00000507059.1:n.450C>G
ENST00000369842.9:c.454C>G MANE Select	ENSP00000358857.4:p.Arg152Gly
ENST00000369835.3:c.349C>G	ENSP00000358850.3:p.Arg117Gly
ENST00000369842.8:c.454C>G	ENSP00000358857.4:p.Arg152Gly
ENST00000428228.5:c.*359C>G	ENSP00000401081.1:n.*359C>G
ENST00000468294.5:n.493C>G
ENST00000471965.1:n.243C>G
ENST00000485261.1:n.723C>G
ENST00000486738.5:n.891C>G
ENST00000492448.1:n.437C>G
NM_000117.2:c.454C>G , LRG_745t1:c.454C>G	NP_000108.1:p.Arg152Gly
XM_024452349.1:c.460C>G	XP_024308117.1:p.Arg154Gly
NM_000117.3:c.454C>G MANE Select	NP_000108.1:p.Arg152Gly