Canonical Allele Identifier: CA2579738433
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379397C>T , CM000685.2:g.154379397C>T GRCh38
NC_000023.10:g.153607757C>T , CM000685.1:g.153607757C>T GRCh37
NC_000023.9:g.153260951C>T NCBI36
NG_008677.1:g.9962C>T , LRG_745:g.9962C>T
NG_011506.1:g.250G>A
NG_011506.2:g.242G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369842.9:c.-88C>T MANE Select ENSP00000358857.4:n.-88C>T
ENST00000369835.3:c.-88C>T ENSP00000358850.3:n.-88C>T
ENST00000369842.8:c.-88C>T ENSP00000358857.4:n.-88C>T
ENST00000428228.5:c.-88C>T ENSP00000401081.1:n.-88C>T
ENST00000486738.5:n.57C>T
NM_000117.2:c.-88C>T , LRG_745t1:c.-88C>T NP_000108.1:n.-88C>T
XM_024452349.1:c.-296C>T XP_024308117.1:n.-296C>T
NM_000117.3:c.-88C>T MANE Select NP_000108.1:n.-88C>T