Canonical Allele Identifier: CA2739273876

Gene: EMD

Linked Data

• ClinVar Variation Id: 2837577
• ClinVar RCV Id: RCV003640070

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379681T>C , CM000685.2:g.154379681T>C	GRCh38
NC_000023.10:g.153608041T>C , CM000685.1:g.153608041T>C	GRCh37
NC_000023.9:g.153261235T>C	NCBI36
NG_008677.1:g.10246T>C , LRG_745:g.10246T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.83-9T>C	ENSP00000507245.1:n.83-9T>C
ENST00000682478.1:n.59-9T>C
ENST00000683576.1:n.59-9T>C
ENST00000683627.1:c.83-9T>C	ENSP00000507533.1:n.83-9T>C
ENST00000684082.1:c.83-9T>C	ENSP00000508266.1:n.83-9T>C
ENST00000684633.1:n.55-9T>C
ENST00000684678.1:c.79-9T>C	ENSP00000507059.1:n.79-9T>C
ENST00000369842.9:c.83-9T>C MANE Select	ENSP00000358857.4:n.83-9T>C
ENST00000369835.3:c.82+115T>C	ENSP00000358850.3:n.82+115T>C
ENST00000369842.8:c.83-9T>C	ENSP00000358857.4:n.83-9T>C
ENST00000428228.5:c.54-9T>C	ENSP00000401081.1:n.54-9T>C
ENST00000468294.5:n.43-9T>C
ENST00000485261.1:n.163+115T>C
ENST00000486738.5:n.227-9T>C
ENST00000492448.1:n.57T>C
ENST00000494443.5:n.140-9T>C
NM_000117.2:c.83-9T>C , LRG_745t1:c.83-9T>C	NP_000108.1:n.83-9T>C
XM_024452349.1:c.-126-9T>C	XP_024308117.1:n.-126-9T>C
NM_000117.3:c.83-9T>C MANE Select	NP_000108.1:n.83-9T>C