Canonical Allele Identifier: CA415257453
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379737C>A , CM000685.2:g.154379737C>A GRCh38
NC_000023.10:g.153608097C>A , CM000685.1:g.153608097C>A GRCh37
NC_000023.9:g.153261291C>A NCBI36
NG_008677.1:g.10302C>A , LRG_745:g.10302C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.130C>A ENSP00000507245.1:p.Gln44Lys
ENST00000682478.1:n.106C>A
ENST00000683576.1:n.106C>A
ENST00000683627.1:c.130C>A ENSP00000507533.1:p.Gln44Lys
ENST00000684082.1:c.130C>A ENSP00000508266.1:p.Gln44Lys
ENST00000684633.1:n.102C>A
ENST00000684678.1:c.126C>A ENSP00000507059.1:p.Pro42=
ENST00000369842.9:c.130C>A MANE Select ENSP00000358857.4:p.Gln44Lys
ENST00000369835.3:c.82+171C>A ENSP00000358850.3:n.82+171C>A
ENST00000369842.8:c.130C>A ENSP00000358857.4:p.Gln44Lys
ENST00000428228.5:c.*35C>A ENSP00000401081.1:n.*35C>A
ENST00000468294.5:n.90C>A
ENST00000485261.1:n.163+171C>A
ENST00000486738.5:n.274C>A
ENST00000492448.1:n.113C>A
ENST00000494443.5:n.187C>A
NM_000117.2:c.130C>A , LRG_745t1:c.130C>A NP_000108.1:p.Gln44Lys
XM_024452349.1:c.-79C>A XP_024308117.1:n.-79C>A
NM_000117.3:c.130C>A MANE Select NP_000108.1:p.Gln44Lys