Canonical Allele Identifier: CA645171854
Gene: EMD HGNC NCBI

Linked Data

dbSNP Id: rs369380333

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379645G>T , CM000685.2:g.154379645G>T GRCh38
NC_000023.10:g.153608005G>T , CM000685.1:g.153608005G>T GRCh37
NC_000023.9:g.153261199G>T NCBI36
NG_008677.1:g.10210G>T , LRG_745:g.10210G>T
NG_011506.1:g.2C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.83-45G>T ENSP00000507245.1:n.83-45G>T
ENST00000682478.1:n.59-45G>T
ENST00000683576.1:n.59-45G>T
ENST00000683627.1:c.83-45G>T ENSP00000507533.1:n.83-45G>T
ENST00000684082.1:c.83-45G>T ENSP00000508266.1:n.83-45G>T
ENST00000684633.1:n.55-45G>T
ENST00000684678.1:c.79-45G>T ENSP00000507059.1:n.79-45G>T
ENST00000369842.9:c.83-45G>T MANE Select ENSP00000358857.4:n.83-45G>T
ENST00000369835.3:c.82+79G>T ENSP00000358850.3:n.82+79G>T
ENST00000369842.8:c.83-45G>T ENSP00000358857.4:n.83-45G>T
ENST00000428228.5:c.54-45G>T ENSP00000401081.1:n.54-45G>T
ENST00000468294.5:n.43-45G>T
ENST00000485261.1:n.163+79G>T
ENST00000486738.5:n.227-45G>T
ENST00000492448.1:n.21G>T
ENST00000494443.5:n.140-45G>T
NM_000117.2:c.83-45G>T , LRG_745t1:c.83-45G>T NP_000108.1:n.83-45G>T
XM_024452349.1:c.-126-45G>T XP_024308117.1:n.-126-45G>T
NM_000117.3:c.83-45G>T MANE Select NP_000108.1:n.83-45G>T