Canonical Allele Identifier: CA1138576238

Gene: EMD

Linked Data

• gnomAD v3: X-154379838-T-G
• gnomAD v4: X-154379838-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379838T>G , CM000685.2:g.154379838T>G	GRCh38
NC_000023.10:g.153608198T>G , CM000685.1:g.153608198T>G	GRCh37
NC_000023.9:g.153261392T>G	NCBI36
NG_008677.1:g.10403T>G , LRG_745:g.10403T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.187+44T>G	ENSP00000507245.1:n.187+44T>G
ENST00000682478.1:n.163+44T>G
ENST00000683576.1:n.163+44T>G
ENST00000683627.1:c.187+44T>G	ENSP00000507533.1:n.187+44T>G
ENST00000684082.1:c.187+44T>G	ENSP00000508266.1:n.187+44T>G
ENST00000684633.1:n.159+44T>G
ENST00000684678.1:c.183+44T>G	ENSP00000507059.1:n.183+44T>G
ENST00000369842.9:c.187+44T>G MANE Select	ENSP00000358857.4:n.187+44T>G
ENST00000369835.3:c.83-104T>G	ENSP00000358850.3:n.83-104T>G
ENST00000369842.8:c.187+44T>G	ENSP00000358857.4:n.187+44T>G
ENST00000428228.5:c.*92+44T>G	ENSP00000401081.1:n.*92+44T>G
ENST00000468294.5:n.147+44T>G
ENST00000485261.1:n.164-104T>G
ENST00000486738.5:n.331+44T>G
ENST00000492448.1:n.170+44T>G
ENST00000494443.5:n.244+44T>G
NM_000117.2:c.187+44T>G , LRG_745t1:c.187+44T>G	NP_000108.1:n.187+44T>G
XM_024452349.1:c.-22+44T>G	XP_024308117.1:n.-22+44T>G
NM_000117.3:c.187+44T>G MANE Select	NP_000108.1:n.187+44T>G