Canonical Allele Identifier: CA2579738439
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379420C>T , CM000685.2:g.154379420C>T GRCh38
NC_000023.10:g.153607780C>T , CM000685.1:g.153607780C>T GRCh37
NC_000023.9:g.153260974C>T NCBI36
NG_008677.1:g.9985C>T , LRG_745:g.9985C>T
NG_011506.1:g.227G>A
NG_011506.2:g.219G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.-65C>T ENSP00000507245.1:n.-65C>T
ENST00000369842.9:c.-65C>T MANE Select ENSP00000358857.4:n.-65C>T
ENST00000369835.3:c.-65C>T ENSP00000358850.3:n.-65C>T
ENST00000369842.8:c.-65C>T ENSP00000358857.4:n.-65C>T
ENST00000428228.5:c.-65C>T ENSP00000401081.1:n.-65C>T
ENST00000485261.1:n.17C>T
ENST00000486738.5:n.80C>T
NM_000117.2:c.-65C>T , LRG_745t1:c.-65C>T NP_000108.1:n.-65C>T
XM_024452349.1:c.-273C>T XP_024308117.1:n.-273C>T
NM_000117.3:c.-65C>T MANE Select NP_000108.1:n.-65C>T