Canonical Allele Identifier: CA121384
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 11176
dbSNP Id: rs132630262

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.130C>T ENSP00000507245.1:p.Gln44Ter
ENST00000682478.1:n.106C>T
ENST00000683576.1:n.106C>T
ENST00000683627.1:n.130C>T ENSP00000507533.1:p.Gln44Ter
ENST00000684082.1:n.130C>T ENSP00000508266.1:p.Gln44Ter
ENST00000684633.1:n.102C>T
ENST00000684678.1:n.126C>T ENSP00000507059.1:p.Pro42=
ENST00000369842.9:c.130C>T MANE Select ENSP00000358857.4:p.Gln44Ter
ENST00000369835.3:c.82+171C>T ENSP00000358850.3:n.82+171C>T
ENST00000369842.8:c.130C>T ENSP00000358857.4:p.Gln44Ter
ENST00000428228.5:c.*35C>T ENSP00000401081.1:n.*35C>T
ENST00000468294.5:n.90C>T
ENST00000485261.1:n.163+171C>T
ENST00000486738.5:n.274C>T
ENST00000492448.1:n.113C>T
ENST00000494443.5:n.187C>T
NM_000117.2:c.130C>T , LRG_745t1:c.130C>T NP_000108.1:p.Gln44Ter
XM_024452349.1:c.-79C>T XP_024308117.1:n.-79C>T
NM_000117.3:c.130C>T MANE Select NP_000108.1:p.Gln44Ter