Canonical Allele Identifier: CA2525173652

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379643G>C , CM000685.2:g.154379643G>C	GRCh38
NC_000023.10:g.153608003G>C , CM000685.1:g.153608003G>C	GRCh37
NC_000023.9:g.153261197G>C	NCBI36
NG_008677.1:g.10208G>C , LRG_745:g.10208G>C
NG_011506.1:g.4C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.83-47G>C	ENSP00000507245.1:n.83-47G>C
ENST00000682478.1:n.59-47G>C
ENST00000683576.1:n.59-47G>C
ENST00000683627.1:c.83-47G>C	ENSP00000507533.1:n.83-47G>C
ENST00000684082.1:c.83-47G>C	ENSP00000508266.1:n.83-47G>C
ENST00000684633.1:n.55-47G>C
ENST00000684678.1:c.79-47G>C	ENSP00000507059.1:n.79-47G>C
ENST00000369842.9:c.83-47G>C MANE Select	ENSP00000358857.4:n.83-47G>C
ENST00000369835.3:c.82+77G>C	ENSP00000358850.3:n.82+77G>C
ENST00000369842.8:c.83-47G>C	ENSP00000358857.4:n.83-47G>C
ENST00000428228.5:c.54-47G>C	ENSP00000401081.1:n.54-47G>C
ENST00000468294.5:n.43-47G>C
ENST00000485261.1:n.163+77G>C
ENST00000486738.5:n.227-47G>C
ENST00000492448.1:n.19G>C
ENST00000494443.5:n.140-47G>C
NM_000117.2:c.83-47G>C , LRG_745t1:c.83-47G>C	NP_000108.1:n.83-47G>C
XM_024452349.1:c.-126-47G>C	XP_024308117.1:n.-126-47G>C
NM_000117.3:c.83-47G>C MANE Select	NP_000108.1:n.83-47G>C