Canonical Allele Identifier: CA2466663876
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379810G= , CM000685.2:g.154379810G= GRCh38
NC_000023.10:g.153608170G= , CM000685.1:g.153608170G= GRCh37
NC_000023.9:g.153261364G= NCBI36
NG_008677.1:g.10375G= , LRG_745:g.10375G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.187+16G= ENSP00000507245.1:n.187+16G=
ENST00000682478.1:n.163+16G=
ENST00000683576.1:n.163+16G=
ENST00000683627.1:c.187+16G= ENSP00000507533.1:n.187+16G=
ENST00000684082.1:c.187+16G= ENSP00000508266.1:n.187+16G=
ENST00000684633.1:n.159+16G=
ENST00000684678.1:c.183+16G= ENSP00000507059.1:n.183+16G=
ENST00000369842.9:c.187+16G= MANE Select ENSP00000358857.4:n.187+16G=
ENST00000369835.3:c.83-132G= ENSP00000358850.3:n.83-132G=
ENST00000369842.8:c.187+16G= ENSP00000358857.4:n.187+16G=
ENST00000428228.5:c.*92+16G= ENSP00000401081.1:n.*92+16G=
ENST00000468294.5:n.147+16G=
ENST00000485261.1:n.164-132G=
ENST00000486738.5:n.331+16G=
ENST00000492448.1:n.170+16G=
ENST00000494443.5:n.244+16G=
NM_000117.2:c.187+16G= , LRG_745t1:c.187+16G= NP_000108.1:n.187+16G=
XM_024452349.1:c.-22+16G= XP_024308117.1:n.-22+16G=
NM_000117.3:c.187+16G= MANE Select NP_000108.1:n.187+16G=