Canonical Allele Identifier: CA3065116298
Community Standard Title: NM_000117.3(EMD):c.60C= (p.Asn20=)
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379544C= , CM000685.2:g.154379544C= GRCh38
NC_000023.10:g.153607904C= , CM000685.1:g.153607904C= GRCh37
NC_000023.9:g.153261098C= NCBI36
NG_008677.1:g.10109C= , LRG_745:g.10109C=
NG_011506.1:g.103G=
NG_011506.2:g.95G=

Transcript Alleles

HGVS Amino-acid Change
NM_000117.3:c.60C= MANE Select NP_000108.1:p.Asn20=
ENST00000369842.9:c.60C= MANE Select ENSP00000358857.4:p.Asn20=
NM_000117.2:c.60C= , LRG_745t1:c.60C= NP_000108.1:p.Asn20=
ENST00000369835.3:c.60C= ENSP00000358850.3:p.Asn20=
ENST00000369842.8:c.60C= ENSP00000358857.4:p.Asn20=
ENST00000428228.5:c.53+7C= ENSP00000401081.1:n.53+7C=
ENST00000468294.5:n.20C=
ENST00000485261.1:n.141C=
ENST00000486738.5:n.204C=
ENST00000494443.5:n.117C=
ENST00000682114.1:c.60C= ENSP00000507245.1:p.Asn20=
ENST00000682478.1:n.36C=
ENST00000683576.1:n.36C=
ENST00000683627.1:c.60C= ENSP00000507533.1:p.Asn20=
ENST00000684082.1:c.60C= ENSP00000508266.1:p.Asn20=
ENST00000684633.1:n.36C=
ENST00000684678.1:c.60C= ENSP00000507059.1:p.Asn20=
XM_024452349.1:c.-149C= XP_024308117.1:n.-149C=