Canonical Allele Identifier: CA415256930

Gene: EMD

Linked Data

• ClinVar Variation Id: 2006904
• ClinVar RCV Id: RCV002837986
• gnomAD v4: X-154379516-A-G
• MyVariant Identifiers: chrX:g.153607876A>G (hg19) ; chrX:g.154379516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379516A>G , CM000685.2:g.154379516A>G	GRCh38
NC_000023.10:g.153607876A>G , CM000685.1:g.153607876A>G	GRCh37
NC_000023.9:g.153261070A>G	NCBI36
NG_008677.1:g.10081A>G , LRG_745:g.10081A>G
NG_011506.1:g.131T>C
NG_011506.2:g.123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.32A>G	ENSP00000507245.1:p.Glu11Gly
ENST00000682478.1:n.8A>G
ENST00000683576.1:n.8A>G
ENST00000683627.1:c.32A>G	ENSP00000507533.1:p.Glu11Gly
ENST00000684082.1:c.32A>G	ENSP00000508266.1:p.Glu11Gly
ENST00000684633.1:n.8A>G
ENST00000684678.1:c.32A>G	ENSP00000507059.1:p.Glu11Gly
ENST00000369842.9:c.32A>G MANE Select	ENSP00000358857.4:p.Glu11Gly
ENST00000369835.3:c.32A>G	ENSP00000358850.3:p.Glu11Gly
ENST00000369842.8:c.32A>G	ENSP00000358857.4:p.Glu11Gly
ENST00000428228.5:c.32A>G	ENSP00000401081.1:p.Glu11Gly
ENST00000485261.1:n.113A>G
ENST00000486738.5:n.176A>G
ENST00000494443.5:n.89A>G
NM_000117.2:c.32A>G , LRG_745t1:c.32A>G	NP_000108.1:p.Glu11Gly
XM_024452349.1:c.-177A>G	XP_024308117.1:n.-177A>G
NM_000117.3:c.32A>G MANE Select	NP_000108.1:p.Glu11Gly