Canonical Allele Identifier: CA2824296143
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379433G>A , CM000685.2:g.154379433G>A GRCh38
NC_000023.10:g.153607793G>A , CM000685.1:g.153607793G>A GRCh37
NC_000023.9:g.153260987G>A NCBI36
NG_008677.1:g.9998G>A , LRG_745:g.9998G>A
NG_011506.1:g.214C>T
NG_011506.2:g.206C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.-52G>A ENSP00000507245.1:n.-52G>A
ENST00000369842.9:c.-52G>A MANE Select ENSP00000358857.4:n.-52G>A
ENST00000369835.3:c.-52G>A ENSP00000358850.3:n.-52G>A
ENST00000369842.8:c.-52G>A ENSP00000358857.4:n.-52G>A
ENST00000428228.5:c.-52G>A ENSP00000401081.1:n.-52G>A
ENST00000485261.1:n.30G>A
ENST00000486738.5:n.93G>A
ENST00000494443.5:n.6G>A
NM_000117.2:c.-52G>A , LRG_745t1:c.-52G>A NP_000108.1:n.-52G>A
XM_024452349.1:c.-260G>A XP_024308117.1:n.-260G>A
NM_000117.3:c.-52G>A MANE Select NP_000108.1:n.-52G>A