Canonical Allele Identifier: CA1138576184

Gene: EMD

Linked Data

• dbSNP Id: rs201927313
• gnomAD v3: X-154379669-G-A
• gnomAD v4: X-154379669-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379669G>A , CM000685.2:g.154379669G>A	GRCh38
NC_000023.10:g.153608029G>A , CM000685.1:g.153608029G>A	GRCh37
NC_000023.9:g.153261223G>A	NCBI36
NG_008677.1:g.10234G>A , LRG_745:g.10234G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.83-21G>A	ENSP00000507245.1:n.83-21G>A
ENST00000682478.1:n.59-21G>A
ENST00000683576.1:n.59-21G>A
ENST00000683627.1:c.83-21G>A	ENSP00000507533.1:n.83-21G>A
ENST00000684082.1:c.83-21G>A	ENSP00000508266.1:n.83-21G>A
ENST00000684633.1:n.55-21G>A
ENST00000684678.1:c.79-21G>A	ENSP00000507059.1:n.79-21G>A
ENST00000369842.9:c.83-21G>A MANE Select	ENSP00000358857.4:n.83-21G>A
ENST00000369835.3:c.82+103G>A	ENSP00000358850.3:n.82+103G>A
ENST00000369842.8:c.83-21G>A	ENSP00000358857.4:n.83-21G>A
ENST00000428228.5:c.54-21G>A	ENSP00000401081.1:n.54-21G>A
ENST00000468294.5:n.43-21G>A
ENST00000485261.1:n.163+103G>A
ENST00000486738.5:n.227-21G>A
ENST00000492448.1:n.45G>A
ENST00000494443.5:n.140-21G>A
NM_000117.2:c.83-21G>A , LRG_745t1:c.83-21G>A	NP_000108.1:n.83-21G>A
XM_024452349.1:c.-126-21G>A	XP_024308117.1:n.-126-21G>A
NM_000117.3:c.83-21G>A MANE Select	NP_000108.1:n.83-21G>A