Canonical Allele Identifier: CA2602697489

Gene: EMD

Linked Data

• gnomAD v3: X-154379921-T-G
• gnomAD v4: X-154379921-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379921T>G , CM000685.2:g.154379921T>G	GRCh38
NC_000023.10:g.153608281T>G , CM000685.1:g.153608281T>G	GRCh37
NC_000023.9:g.153261475T>G	NCBI36
NG_008677.1:g.10486T>G , LRG_745:g.10486T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.188-21T>G	ENSP00000507245.1:n.188-21T>G
ENST00000682478.1:n.164-21T>G
ENST00000683576.1:n.164-21T>G
ENST00000683627.1:c.188-21T>G	ENSP00000507533.1:n.188-21T>G
ENST00000684082.1:c.188-21T>G	ENSP00000508266.1:n.188-21T>G
ENST00000684633.1:n.160-21T>G
ENST00000684678.1:c.184-21T>G	ENSP00000507059.1:n.184-21T>G
ENST00000369842.9:c.188-21T>G MANE Select	ENSP00000358857.4:n.188-21T>G
ENST00000369835.3:c.83-21T>G	ENSP00000358850.3:n.83-21T>G
ENST00000369842.8:c.188-21T>G	ENSP00000358857.4:n.188-21T>G
ENST00000428228.5:c.*93-21T>G	ENSP00000401081.1:n.*93-21T>G
ENST00000468294.5:n.148-21T>G
ENST00000485261.1:n.164-21T>G
ENST00000486738.5:n.332-21T>G
ENST00000492448.1:n.171-21T>G
ENST00000494443.5:n.245-21T>G
NM_000117.2:c.188-21T>G , LRG_745t1:c.188-21T>G	NP_000108.1:n.188-21T>G
XM_024452349.1:c.-21-21T>G	XP_024308117.1:n.-21-21T>G
NM_000117.3:c.188-21T>G MANE Select	NP_000108.1:n.188-21T>G