Canonical Allele Identifier: CA415258213

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609131T>A (hg19) ; chrX:g.154380771T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380771T>A , CM000685.2:g.154380771T>A	GRCh38
NC_000023.10:g.153609131T>A , CM000685.1:g.153609131T>A	GRCh37
NC_000023.9:g.153262325T>A	NCBI36
NG_008677.1:g.11336T>A , LRG_745:g.11336T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.418T>A	ENSP00000507245.1:p.Leu140Met
ENST00000682478.1:n.608T>A
ENST00000683576.1:n.608T>A
ENST00000683627.1:c.418T>A	ENSP00000507533.1:p.Leu140Met
ENST00000684082.1:c.375T>A	ENSP00000508266.1:n.375T>A
ENST00000684633.1:n.390T>A
ENST00000684678.1:c.414T>A	ENSP00000507059.1:n.414T>A
ENST00000369842.9:c.418T>A MANE Select	ENSP00000358857.4:p.Leu140Met
ENST00000369835.3:c.313T>A	ENSP00000358850.3:p.Leu105Met
ENST00000369842.8:c.418T>A	ENSP00000358857.4:p.Leu140Met
ENST00000428228.5:c.*323T>A	ENSP00000401081.1:n.*323T>A
ENST00000468294.5:n.378T>A
ENST00000471965.1:n.207T>A
ENST00000485261.1:n.608T>A
ENST00000486738.5:n.776T>A
ENST00000492448.1:n.401T>A
NM_000117.2:c.418T>A , LRG_745t1:c.418T>A	NP_000108.1:p.Leu140Met
XM_024452349.1:c.424T>A	XP_024308117.1:p.Leu142Met
NM_000117.3:c.418T>A MANE Select	NP_000108.1:p.Leu140Met