Canonical Allele Identifier: CA2739273881

Gene: EMD

Linked Data

• ClinVar Variation Id: 2872701
• ClinVar RCV Id: RCV003638252

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380027A>G , CM000685.2:g.154380027A>G	GRCh38
NC_000023.10:g.153608387A>G , CM000685.1:g.153608387A>G	GRCh37
NC_000023.9:g.153261581A>G	NCBI36
NG_008677.1:g.10592A>G , LRG_745:g.10592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+8A>G	ENSP00000507245.1:n.265+8A>G
ENST00000682478.1:n.249A>G
ENST00000683576.1:n.249A>G
ENST00000683627.1:c.265+8A>G	ENSP00000507533.1:n.265+8A>G
ENST00000684082.1:c.265+8A>G	ENSP00000508266.1:n.265+8A>G
ENST00000684633.1:n.237+8A>G
ENST00000684678.1:c.261+8A>G	ENSP00000507059.1:n.261+8A>G
ENST00000369842.9:c.265+8A>G MANE Select	ENSP00000358857.4:n.265+8A>G
ENST00000369835.3:c.160+8A>G	ENSP00000358850.3:n.160+8A>G
ENST00000369842.8:c.265+8A>G	ENSP00000358857.4:n.265+8A>G
ENST00000428228.5:c.*170+8A>G	ENSP00000401081.1:n.*170+8A>G
ENST00000468294.5:n.225+8A>G
ENST00000485261.1:n.249A>G
ENST00000486738.5:n.417A>G
ENST00000492448.1:n.248+8A>G
ENST00000494443.5:n.330A>G
NM_000117.2:c.265+8A>G , LRG_745t1:c.265+8A>G	NP_000108.1:n.265+8A>G
XM_024452349.1:c.65A>G	XP_024308117.1:p.Gln22Arg
NM_000117.3:c.265+8A>G MANE Select	NP_000108.1:n.265+8A>G