Canonical Allele Identifier: CA2466664142
Gene: EMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380416G= , CM000685.2:g.154380416G= GRCh38
NC_000023.10:g.153608776G= , CM000685.1:g.153608776G= GRCh37
NC_000023.9:g.153261970G= NCBI36
NG_008677.1:g.10981G= , LRG_745:g.10981G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.399+49G= ENSP00000507245.1:n.399+49G=
ENST00000682478.1:n.589+49G=
ENST00000683576.1:n.589+49G=
ENST00000683627.1:c.399+49G= ENSP00000507533.1:n.399+49G=
ENST00000684082.1:c.356+49G= ENSP00000508266.1:n.356+49G=
ENST00000684633.1:n.371+49G=
ENST00000684678.1:c.395+49G= ENSP00000507059.1:n.395+49G=
ENST00000369842.9:c.399+49G= MANE Select ENSP00000358857.4:n.399+49G=
ENST00000369835.3:c.294+49G= ENSP00000358850.3:n.294+49G=
ENST00000369842.8:c.399+49G= ENSP00000358857.4:n.399+49G=
ENST00000428228.5:c.*304+49G= ENSP00000401081.1:n.*304+49G=
ENST00000468294.5:n.359+49G=
ENST00000485261.1:n.589+49G=
ENST00000486738.5:n.757+49G=
ENST00000492448.1:n.382+49G=
ENST00000494443.5:n.719G=
NM_000117.2:c.399+49G= , LRG_745t1:c.399+49G= NP_000108.1:n.399+49G=
XM_024452349.1:c.405+49G= XP_024308117.1:n.405+49G=
NM_000117.3:c.399+49G= MANE Select NP_000108.1:n.399+49G=