Canonical Allele Identifier: CA2466663975
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380017A= , CM000685.2:g.154380017A= GRCh38
NC_000023.10:g.153608377A= , CM000685.1:g.153608377A= GRCh37
NC_000023.9:g.153261571A= NCBI36
NG_008677.1:g.10582A= , LRG_745:g.10582A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.263A= ENSP00000507245.1:p.Lys88=
ENST00000682478.1:n.239A=
ENST00000683576.1:n.239A=
ENST00000683627.1:c.263A= ENSP00000507533.1:p.Lys88=
ENST00000684082.1:c.263A= ENSP00000508266.1:p.Lys88=
ENST00000684633.1:n.235A=
ENST00000684678.1:c.259A= ENSP00000507059.1:n.259A=
ENST00000369842.9:c.263A= MANE Select ENSP00000358857.4:p.Lys88=
ENST00000369835.3:c.158A= ENSP00000358850.3:p.Lys53=
ENST00000369842.8:c.263A= ENSP00000358857.4:p.Lys88=
ENST00000428228.5:c.*168A= ENSP00000401081.1:n.*168A=
ENST00000468294.5:n.223A=
ENST00000485261.1:n.239A=
ENST00000486738.5:n.407A=
ENST00000492448.1:n.246A=
ENST00000494443.5:n.320A=
NM_000117.2:c.263A= , LRG_745t1:c.263A= NP_000108.1:p.Lys88=
XM_024452349.1:c.55A= XP_024308117.1:p.Arg19=
NM_000117.3:c.263A= MANE Select NP_000108.1:p.Lys88=