Canonical Allele Identifier: CA2695114966
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379395C>G , CM000685.2:g.154379395C>G GRCh38
NC_000023.10:g.153607755C>G , CM000685.1:g.153607755C>G GRCh37
NC_000023.9:g.153260949C>G NCBI36
NG_008677.1:g.9960C>G , LRG_745:g.9960C>G
NG_011506.1:g.252G>C
NG_011506.2:g.244G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369842.9:c.-90C>G MANE Select ENSP00000358857.4:n.-90C>G
ENST00000369835.3:c.-90C>G ENSP00000358850.3:n.-90C>G
ENST00000369842.8:c.-90C>G ENSP00000358857.4:n.-90C>G
ENST00000428228.5:c.-90C>G ENSP00000401081.1:n.-90C>G
ENST00000486738.5:n.55C>G
NM_000117.2:c.-90C>G , LRG_745t1:c.-90C>G NP_000108.1:n.-90C>G
XM_024452349.1:c.-298C>G XP_024308117.1:n.-298C>G
NM_000117.3:c.-90C>G MANE Select NP_000108.1:n.-90C>G