Canonical Allele Identifier: CA2579738438

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379413C>G , CM000685.2:g.154379413C>G	GRCh38
NC_000023.10:g.153607773C>G , CM000685.1:g.153607773C>G	GRCh37
NC_000023.9:g.153260967C>G	NCBI36
NG_008677.1:g.9978C>G , LRG_745:g.9978C>G
NG_011506.1:g.234G>C
NG_011506.2:g.226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-72C>G MANE Select	ENSP00000358857.4:n.-72C>G
ENST00000369835.3:c.-72C>G	ENSP00000358850.3:n.-72C>G
ENST00000369842.8:c.-72C>G	ENSP00000358857.4:n.-72C>G
ENST00000428228.5:c.-72C>G	ENSP00000401081.1:n.-72C>G
ENST00000485261.1:n.10C>G
ENST00000486738.5:n.73C>G
NM_000117.2:c.-72C>G , LRG_745t1:c.-72C>G	NP_000108.1:n.-72C>G
XM_024452349.1:c.-280C>G	XP_024308117.1:n.-280C>G
NM_000117.3:c.-72C>G MANE Select	NP_000108.1:n.-72C>G