Canonical Allele Identifier: CA415258215

Gene: EMD

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.418T>G	ENSP00000507245.1:p.Leu140Val
ENST00000682478.1:n.608T>G
ENST00000683576.1:n.608T>G
ENST00000683627.1:c.418T>G	ENSP00000507533.1:p.Leu140Val
ENST00000684082.1:c.375T>G	ENSP00000508266.1:n.375T>G
ENST00000684633.1:n.390T>G
ENST00000684678.1:c.414T>G	ENSP00000507059.1:n.414T>G
ENST00000369842.9:c.418T>G MANE Select	ENSP00000358857.4:p.Leu140Val
ENST00000369835.3:c.313T>G	ENSP00000358850.3:p.Leu105Val
ENST00000369842.8:c.418T>G	ENSP00000358857.4:p.Leu140Val
ENST00000428228.5:c.*323T>G	ENSP00000401081.1:n.*323T>G
ENST00000468294.5:n.378T>G
ENST00000471965.1:n.207T>G
ENST00000485261.1:n.608T>G
ENST00000486738.5:n.776T>G
ENST00000492448.1:n.401T>G
NM_000117.2:c.418T>G , LRG_745t1:c.418T>G	NP_000108.1:p.Leu140Val
XM_024452349.1:c.424T>G	XP_024308117.1:p.Leu142Val
NM_000117.3:c.418T>G MANE Select	NP_000108.1:p.Leu140Val