Canonical Allele Identifier: CA1138576307

Gene: EMD

Linked Data

• dbSNP Id: rs2067878017
• gnomAD v3: X-154380083-C-G
• gnomAD v4: X-154380083-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380083C>G , CM000685.2:g.154380083C>G	GRCh38
NC_000023.10:g.153608443C>G , CM000685.1:g.153608443C>G	GRCh37
NC_000023.9:g.153261637C>G	NCBI36
NG_008677.1:g.10648C>G , LRG_745:g.10648C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+64C>G	ENSP00000507245.1:n.265+64C>G
ENST00000682478.1:n.305C>G
ENST00000683576.1:n.305C>G
ENST00000683627.1:c.265+64C>G	ENSP00000507533.1:n.265+64C>G
ENST00000684082.1:c.265+64C>G	ENSP00000508266.1:n.265+64C>G
ENST00000684633.1:n.237+64C>G
ENST00000684678.1:c.261+64C>G	ENSP00000507059.1:n.261+64C>G
ENST00000369842.9:c.265+64C>G MANE Select	ENSP00000358857.4:n.265+64C>G
ENST00000369835.3:c.160+64C>G	ENSP00000358850.3:n.160+64C>G
ENST00000369842.8:c.265+64C>G	ENSP00000358857.4:n.265+64C>G
ENST00000428228.5:c.*170+64C>G	ENSP00000401081.1:n.*170+64C>G
ENST00000468294.5:n.225+64C>G
ENST00000485261.1:n.305C>G
ENST00000486738.5:n.473C>G
ENST00000492448.1:n.248+64C>G
ENST00000494443.5:n.386C>G
NM_000117.2:c.265+64C>G , LRG_745t1:c.265+64C>G	NP_000108.1:n.265+64C>G
XM_024452349.1:c.121C>G	XP_024308117.1:p.Gln41Glu
NM_000117.3:c.265+64C>G MANE Select	NP_000108.1:n.265+64C>G