Canonical Allele Identifier: CA2466663864
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379780C= , CM000685.2:g.154379780C= GRCh38
NC_000023.10:g.153608140C= , CM000685.1:g.153608140C= GRCh37
NC_000023.9:g.153261334C= NCBI36
NG_008677.1:g.10345C= , LRG_745:g.10345C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.173C= ENSP00000507245.1:p.Ser58=
ENST00000682478.1:n.149C=
ENST00000683576.1:n.149C=
ENST00000683627.1:c.173C= ENSP00000507533.1:p.Ser58=
ENST00000684082.1:c.173C= ENSP00000508266.1:p.Ser58=
ENST00000684633.1:n.145C=
ENST00000684678.1:c.169C= ENSP00000507059.1:p.Leu57=
ENST00000369842.9:c.173C= MANE Select ENSP00000358857.4:p.Ser58=
ENST00000369835.3:c.83-162C= ENSP00000358850.3:n.83-162C=
ENST00000369842.8:c.173C= ENSP00000358857.4:p.Ser58=
ENST00000428228.5:c.*78C= ENSP00000401081.1:n.*78C=
ENST00000468294.5:n.133C=
ENST00000485261.1:n.164-162C=
ENST00000486738.5:n.317C=
ENST00000492448.1:n.156C=
ENST00000494443.5:n.230C=
NM_000117.2:c.173C= , LRG_745t1:c.173C= NP_000108.1:p.Ser58=
XM_024452349.1:c.-36C= XP_024308117.1:n.-36C=
NM_000117.3:c.173C= MANE Select NP_000108.1:p.Ser58=