Canonical Allele Identifier: CA2824296138
Gene: EMD HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379360T>C , CM000685.2:g.154379360T>C GRCh38
NC_000023.10:g.153607720T>C , CM000685.1:g.153607720T>C GRCh37
NC_000023.9:g.153260914T>C NCBI36
NG_008677.1:g.9925T>C , LRG_745:g.9925T>C
NG_011506.1:g.287A>G
NG_011506.2:g.279A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369842.9:c.-125T>C MANE Select ENSP00000358857.4:n.-125T>C
ENST00000369835.3:c.-125T>C ENSP00000358850.3:n.-125T>C
ENST00000369842.8:c.-125T>C ENSP00000358857.4:n.-125T>C
ENST00000486738.5:n.20T>C
NM_000117.2:c.-125T>C , LRG_745t1:c.-125T>C NP_000108.1:n.-125T>C
XM_024452349.1:c.-333T>C XP_024308117.1:n.-333T>C
NM_000117.3:c.-125T>C MANE Select NP_000108.1:n.-125T>C
Search 100 bp 5'
Search 100 bp 3'