Canonical Allele Identifier: CA2824296144

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379436T>G , CM000685.2:g.154379436T>G	GRCh38
NC_000023.10:g.153607796T>G , CM000685.1:g.153607796T>G	GRCh37
NC_000023.9:g.153260990T>G	NCBI36
NG_008677.1:g.10001T>G , LRG_745:g.10001T>G
NG_011506.1:g.211A>C
NG_011506.2:g.203A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.-49T>G	ENSP00000507245.1:n.-49T>G
ENST00000369842.9:c.-49T>G MANE Select	ENSP00000358857.4:n.-49T>G
ENST00000369835.3:c.-49T>G	ENSP00000358850.3:n.-49T>G
ENST00000369842.8:c.-49T>G	ENSP00000358857.4:n.-49T>G
ENST00000428228.5:c.-49T>G	ENSP00000401081.1:n.-49T>G
ENST00000485261.1:n.33T>G
ENST00000486738.5:n.96T>G
ENST00000494443.5:n.9T>G
NM_000117.2:c.-49T>G , LRG_745t1:c.-49T>G	NP_000108.1:n.-49T>G
XM_024452349.1:c.-257T>G	XP_024308117.1:n.-257T>G
NM_000117.3:c.-49T>G MANE Select	NP_000108.1:n.-49T>G