Canonical Allele Identifier: CA415258212

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609129T>G (hg19) ; chrX:g.154380769T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380769T>G , CM000685.2:g.154380769T>G	GRCh38
NC_000023.10:g.153609129T>G , CM000685.1:g.153609129T>G	GRCh37
NC_000023.9:g.153262323T>G	NCBI36
NG_008677.1:g.11334T>G , LRG_745:g.11334T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.416T>G	ENSP00000507245.1:p.Leu139Arg
ENST00000682478.1:n.606T>G
ENST00000683576.1:n.606T>G
ENST00000683627.1:c.416T>G	ENSP00000507533.1:p.Leu139Arg
ENST00000684082.1:c.373T>G	ENSP00000508266.1:n.373T>G
ENST00000684633.1:n.388T>G
ENST00000684678.1:c.412T>G	ENSP00000507059.1:n.412T>G
ENST00000369842.9:c.416T>G MANE Select	ENSP00000358857.4:p.Leu139Arg
ENST00000369835.3:c.311T>G	ENSP00000358850.3:p.Leu104Arg
ENST00000369842.8:c.416T>G	ENSP00000358857.4:p.Leu139Arg
ENST00000428228.5:c.*321T>G	ENSP00000401081.1:n.*321T>G
ENST00000468294.5:n.376T>G
ENST00000471965.1:n.205T>G
ENST00000485261.1:n.606T>G
ENST00000486738.5:n.774T>G
ENST00000492448.1:n.399T>G
NM_000117.2:c.416T>G , LRG_745t1:c.416T>G	NP_000108.1:p.Leu139Arg
XM_024452349.1:c.422T>G	XP_024308117.1:p.Leu141Arg
NM_000117.3:c.416T>G MANE Select	NP_000108.1:p.Leu139Arg