Canonical Allele Identifier: CA2697544775

Gene: EMD

Linked Data

• ClinVar Variation Id: 2701292
• ClinVar RCV Id: RCV003523981

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379799G>C , CM000685.2:g.154379799G>C	GRCh38
NC_000023.10:g.153608159G>C , CM000685.1:g.153608159G>C	GRCh37
NC_000023.9:g.153261353G>C	NCBI36
NG_008677.1:g.10364G>C , LRG_745:g.10364G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.187+5G>C	ENSP00000507245.1:n.187+5G>C
ENST00000682478.1:n.163+5G>C
ENST00000683576.1:n.163+5G>C
ENST00000683627.1:c.187+5G>C	ENSP00000507533.1:n.187+5G>C
ENST00000684082.1:c.187+5G>C	ENSP00000508266.1:n.187+5G>C
ENST00000684633.1:n.159+5G>C
ENST00000684678.1:c.183+5G>C	ENSP00000507059.1:n.183+5G>C
ENST00000369842.9:c.187+5G>C MANE Select	ENSP00000358857.4:n.187+5G>C
ENST00000369835.3:c.83-143G>C	ENSP00000358850.3:n.83-143G>C
ENST00000369842.8:c.187+5G>C	ENSP00000358857.4:n.187+5G>C
ENST00000428228.5:c.*92+5G>C	ENSP00000401081.1:n.*92+5G>C
ENST00000468294.5:n.147+5G>C
ENST00000485261.1:n.164-143G>C
ENST00000486738.5:n.331+5G>C
ENST00000492448.1:n.170+5G>C
ENST00000494443.5:n.244+5G>C
NM_000117.2:c.187+5G>C , LRG_745t1:c.187+5G>C	NP_000108.1:n.187+5G>C
XM_024452349.1:c.-22+5G>C	XP_024308117.1:n.-22+5G>C
NM_000117.3:c.187+5G>C MANE Select	NP_000108.1:n.187+5G>C