Canonical Allele Identifier: CA2695114964
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379393G>A , CM000685.2:g.154379393G>A GRCh38
NC_000023.10:g.153607753G>A , CM000685.1:g.153607753G>A GRCh37
NC_000023.9:g.153260947G>A NCBI36
NG_008677.1:g.9958G>A , LRG_745:g.9958G>A
NG_011506.1:g.254C>T
NG_011506.2:g.246C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369842.9:c.-92G>A MANE Select ENSP00000358857.4:n.-92G>A
ENST00000369835.3:c.-92G>A ENSP00000358850.3:n.-92G>A
ENST00000369842.8:c.-92G>A ENSP00000358857.4:n.-92G>A
ENST00000428228.5:c.-92G>A ENSP00000401081.1:n.-92G>A
ENST00000486738.5:n.53G>A
NM_000117.2:c.-92G>A , LRG_745t1:c.-92G>A NP_000108.1:n.-92G>A
XM_024452349.1:c.-300G>A XP_024308117.1:n.-300G>A
NM_000117.3:c.-92G>A MANE Select NP_000108.1:n.-92G>A