Canonical Allele Identifier: CA2466663867
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379787C= , CM000685.2:g.154379787C= GRCh38
NC_000023.10:g.153608147C= , CM000685.1:g.153608147C= GRCh37
NC_000023.9:g.153261341C= NCBI36
NG_008677.1:g.10352C= , LRG_745:g.10352C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.180C= ENSP00000507245.1:p.Ser60=
ENST00000682478.1:n.156C=
ENST00000683576.1:n.156C=
ENST00000683627.1:c.180C= ENSP00000507533.1:p.Ser60=
ENST00000684082.1:c.180C= ENSP00000508266.1:p.Ser60=
ENST00000684633.1:n.152C=
ENST00000684678.1:c.176C= ENSP00000507059.1:p.Ala59=
ENST00000369842.9:c.180C= MANE Select ENSP00000358857.4:p.Ser60=
ENST00000369835.3:c.83-155C= ENSP00000358850.3:n.83-155C=
ENST00000369842.8:c.180C= ENSP00000358857.4:p.Ser60=
ENST00000428228.5:c.*85C= ENSP00000401081.1:n.*85C=
ENST00000468294.5:n.140C=
ENST00000485261.1:n.164-155C=
ENST00000486738.5:n.324C=
ENST00000492448.1:n.163C=
ENST00000494443.5:n.237C=
NM_000117.2:c.180C= , LRG_745t1:c.180C= NP_000108.1:p.Ser60=
XM_024452349.1:c.-29C= XP_024308117.1:n.-29C=
NM_000117.3:c.180C= MANE Select NP_000108.1:p.Ser60=