Canonical Allele Identifier: CA415256922

Gene: EMD

Linked Data

• gnomAD v4: X-154379515-G-T
• MyVariant Identifiers: chrX:g.153607875G>T (hg19) ; chrX:g.154379515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379515G>T , CM000685.2:g.154379515G>T	GRCh38
NC_000023.10:g.153607875G>T , CM000685.1:g.153607875G>T	GRCh37
NC_000023.9:g.153261069G>T	NCBI36
NG_008677.1:g.10080G>T , LRG_745:g.10080G>T
NG_011506.1:g.132C>A
NG_011506.2:g.124C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.31G>T	ENSP00000507245.1:p.Glu11Ter
ENST00000682478.1:n.7G>T
ENST00000683576.1:n.7G>T
ENST00000683627.1:c.31G>T	ENSP00000507533.1:p.Glu11Ter
ENST00000684082.1:c.31G>T	ENSP00000508266.1:p.Glu11Ter
ENST00000684633.1:n.7G>T
ENST00000684678.1:c.31G>T	ENSP00000507059.1:p.Glu11Ter
ENST00000369842.9:c.31G>T MANE Select	ENSP00000358857.4:p.Glu11Ter
ENST00000369835.3:c.31G>T	ENSP00000358850.3:p.Glu11Ter
ENST00000369842.8:c.31G>T	ENSP00000358857.4:p.Glu11Ter
ENST00000428228.5:c.31G>T	ENSP00000401081.1:p.Glu11Ter
ENST00000485261.1:n.112G>T
ENST00000486738.5:n.175G>T
ENST00000494443.5:n.88G>T
NM_000117.2:c.31G>T , LRG_745t1:c.31G>T	NP_000108.1:p.Glu11Ter
XM_024452349.1:c.-178G>T	XP_024308117.1:n.-178G>T
NM_000117.3:c.31G>T MANE Select	NP_000108.1:p.Glu11Ter