Canonical Allele Identifier: CA2824296153

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379633T>G , CM000685.2:g.154379633T>G	GRCh38
NC_000023.10:g.153607993T>G , CM000685.1:g.153607993T>G	GRCh37
NC_000023.9:g.153261187T>G	NCBI36
NG_008677.1:g.10198T>G , LRG_745:g.10198T>G
NG_011506.1:g.14A>C
NG_011506.2:g.6A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.83-57T>G	ENSP00000507245.1:n.83-57T>G
ENST00000682478.1:n.59-57T>G
ENST00000683576.1:n.59-57T>G
ENST00000683627.1:c.83-57T>G	ENSP00000507533.1:n.83-57T>G
ENST00000684082.1:c.83-57T>G	ENSP00000508266.1:n.83-57T>G
ENST00000684633.1:n.55-57T>G
ENST00000684678.1:c.79-57T>G	ENSP00000507059.1:n.79-57T>G
ENST00000369842.9:c.83-57T>G MANE Select	ENSP00000358857.4:n.83-57T>G
ENST00000369835.3:c.82+67T>G	ENSP00000358850.3:n.82+67T>G
ENST00000369842.8:c.83-57T>G	ENSP00000358857.4:n.83-57T>G
ENST00000428228.5:c.54-57T>G	ENSP00000401081.1:n.54-57T>G
ENST00000468294.5:n.43-57T>G
ENST00000485261.1:n.163+67T>G
ENST00000486738.5:n.227-57T>G
ENST00000492448.1:n.9T>G
ENST00000494443.5:n.140-57T>G
NM_000117.2:c.83-57T>G , LRG_745t1:c.83-57T>G	NP_000108.1:n.83-57T>G
XM_024452349.1:c.-126-57T>G	XP_024308117.1:n.-126-57T>G
NM_000117.3:c.83-57T>G MANE Select	NP_000108.1:n.83-57T>G