Canonical Allele Identifier: CA415258982
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154381030T>A , CM000685.2:g.154381030T>A GRCh38
NC_000023.10:g.153609390T>A , CM000685.1:g.153609390T>A GRCh37
NC_000023.9:g.153262584T>A NCBI36
NG_008677.1:g.11595T>A , LRG_745:g.11595T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.572+26T>A ENSP00000507245.1:n.572+26T>A
ENST00000682478.1:n.762+26T>A
ENST00000683576.1:n.788T>A
ENST00000683627.1:c.598T>A ENSP00000507533.1:p.Trp200Arg
ENST00000684082.1:c.555T>A ENSP00000508266.1:n.555T>A
ENST00000684633.1:n.570T>A
ENST00000684678.1:c.568+26T>A ENSP00000507059.1:n.568+26T>A
ENST00000369842.9:c.598T>A MANE Select ENSP00000358857.4:p.Trp200Arg
ENST00000369835.3:c.493T>A ENSP00000358850.3:p.Trp165Arg
ENST00000369842.8:c.598T>A ENSP00000358857.4:p.Trp200Arg
ENST00000428228.5:c.*503T>A ENSP00000401081.1:n.*503T>A
ENST00000471965.1:n.387T>A
ENST00000486738.5:n.1035T>A
ENST00000492448.1:n.581T>A
NM_000117.2:c.598T>A , LRG_745t1:c.598T>A NP_000108.1:p.Trp200Arg
XM_024452349.1:c.604T>A XP_024308117.1:p.Trp202Arg
NM_000117.3:c.598T>A MANE Select NP_000108.1:p.Trp200Arg