Canonical Allele Identifier: CA415257692

Gene: EMD

Linked Data

• ClinVar Variation Id: 2105782
• ClinVar RCV Id: RCV003015003
• MyVariant Identifiers: chrX:g.153608349A>G (hg19) ; chrX:g.154379989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379989A>G , CM000685.2:g.154379989A>G	GRCh38
NC_000023.10:g.153608349A>G , CM000685.1:g.153608349A>G	GRCh37
NC_000023.9:g.153261543A>G	NCBI36
NG_008677.1:g.10554A>G , LRG_745:g.10554A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.235A>G	ENSP00000507245.1:p.Lys79Glu
ENST00000682478.1:n.211A>G
ENST00000683576.1:n.211A>G
ENST00000683627.1:c.235A>G	ENSP00000507533.1:p.Lys79Glu
ENST00000684082.1:c.235A>G	ENSP00000508266.1:p.Lys79Glu
ENST00000684633.1:n.207A>G
ENST00000684678.1:c.231A>G	ENSP00000507059.1:n.231A>G
ENST00000369842.9:c.235A>G MANE Select	ENSP00000358857.4:p.Lys79Glu
ENST00000369835.3:c.130A>G	ENSP00000358850.3:p.Lys44Glu
ENST00000369842.8:c.235A>G	ENSP00000358857.4:p.Lys79Glu
ENST00000428228.5:c.*140A>G	ENSP00000401081.1:n.*140A>G
ENST00000468294.5:n.195A>G
ENST00000485261.1:n.211A>G
ENST00000486738.5:n.379A>G
ENST00000492448.1:n.218A>G
ENST00000494443.5:n.292A>G
NM_000117.2:c.235A>G , LRG_745t1:c.235A>G	NP_000108.1:p.Lys79Glu
XM_024452349.1:c.27A>G	XP_024308117.1:p.Arg9=
NM_000117.3:c.235A>G MANE Select	NP_000108.1:p.Lys79Glu