Canonical Allele Identifier: CA337289104
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 1417656
ClinVar RCV Id: RCV001938533
dbSNP Id: rs941514119

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379744G>A , CM000685.2:g.154379744G>A GRCh38
NC_000023.10:g.153608104G>A , CM000685.1:g.153608104G>A GRCh37
NC_000023.9:g.153261298G>A NCBI36
NG_008677.1:g.10309G>A , LRG_745:g.10309G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.137G>A ENSP00000507245.1:p.Arg46Gln
ENST00000682478.1:n.113G>A
ENST00000683576.1:n.113G>A
ENST00000683627.1:c.137G>A ENSP00000507533.1:p.Arg46Gln
ENST00000684082.1:c.137G>A ENSP00000508266.1:p.Arg46Gln
ENST00000684633.1:n.109G>A
ENST00000684678.1:c.133G>A ENSP00000507059.1:p.Gly45Ser
ENST00000369842.9:c.137G>A MANE Select ENSP00000358857.4:p.Arg46Gln
ENST00000369835.3:c.82+178G>A ENSP00000358850.3:n.82+178G>A
ENST00000369842.8:c.137G>A ENSP00000358857.4:p.Arg46Gln
ENST00000428228.5:c.*42G>A ENSP00000401081.1:n.*42G>A
ENST00000468294.5:n.97G>A
ENST00000485261.1:n.163+178G>A
ENST00000486738.5:n.281G>A
ENST00000492448.1:n.120G>A
ENST00000494443.5:n.194G>A
NM_000117.2:c.137G>A , LRG_745t1:c.137G>A NP_000108.1:p.Arg46Gln
XM_024452349.1:c.-72G>A XP_024308117.1:n.-72G>A
NM_000117.3:c.137G>A MANE Select NP_000108.1:p.Arg46Gln