Canonical Allele Identifier: CA2466663949
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379942A= , CM000685.2:g.154379942A= GRCh38
NC_000023.10:g.153608302A= , CM000685.1:g.153608302A= GRCh37
NC_000023.9:g.153261496A= NCBI36
NG_008677.1:g.10507A= , LRG_745:g.10507A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.188A= ENSP00000507245.1:p.Asp63=
ENST00000682478.1:n.164A=
ENST00000683576.1:n.164A=
ENST00000683627.1:c.188A= ENSP00000507533.1:p.Asp63=
ENST00000684082.1:c.188A= ENSP00000508266.1:p.Asp63=
ENST00000684633.1:n.160A=
ENST00000684678.1:c.184A= ENSP00000507059.1:p.Thr62=
ENST00000369842.9:c.188A= MANE Select ENSP00000358857.4:p.Asp63=
ENST00000369835.3:c.83A= ENSP00000358850.3:p.Asp28=
ENST00000369842.8:c.188A= ENSP00000358857.4:p.Asp63=
ENST00000428228.5:c.*93A= ENSP00000401081.1:n.*93A=
ENST00000468294.5:n.148A=
ENST00000485261.1:n.164A=
ENST00000486738.5:n.332A=
ENST00000492448.1:n.171A=
ENST00000494443.5:n.245A=
NM_000117.2:c.188A= , LRG_745t1:c.188A= NP_000108.1:p.Asp63=
XM_024452349.1:c.-21A= XP_024308117.1:n.-21A=
NM_000117.3:c.188A= MANE Select NP_000108.1:p.Asp63=