Canonical Allele Identifier: CA2466664440
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154381040G= , CM000685.2:g.154381040G= GRCh38
NC_000023.10:g.153609400G= , CM000685.1:g.153609400G= GRCh37
NC_000023.9:g.153262594G= NCBI36
NG_008677.1:g.11605G= , LRG_745:g.11605G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.572+36G= ENSP00000507245.1:n.572+36G=
ENST00000682478.1:n.762+36G=
ENST00000683576.1:n.798G=
ENST00000683627.1:c.608G= ENSP00000507533.1:p.Arg203=
ENST00000684082.1:c.565G= ENSP00000508266.1:n.565G=
ENST00000684633.1:n.580G=
ENST00000684678.1:c.568+36G= ENSP00000507059.1:n.568+36G=
ENST00000369842.9:c.608G= MANE Select ENSP00000358857.4:p.Arg203=
ENST00000369835.3:c.503G= ENSP00000358850.3:p.Arg168=
ENST00000369842.8:c.608G= ENSP00000358857.4:p.Arg203=
ENST00000428228.5:c.*513G= ENSP00000401081.1:n.*513G=
ENST00000471965.1:n.397G=
ENST00000486738.5:n.1045G=
ENST00000492448.1:n.591G=
NM_000117.2:c.608G= , LRG_745t1:c.608G= NP_000108.1:p.Arg203=
XM_024452349.1:c.614G= XP_024308117.1:p.Arg205=
NM_000117.3:c.608G= MANE Select NP_000108.1:p.Arg203=