Canonical Allele Identifier: CA2466664318

Gene: EMD

Linked Data

• dbSNP Id: rs2067883105

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380805G>C , CM000685.2:g.154380805G>C	GRCh38
NC_000023.10:g.153609165G>C , CM000685.1:g.153609165G>C	GRCh37
NC_000023.9:g.153262359G>C	NCBI36
NG_008677.1:g.11370G>C , LRG_745:g.11370G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.449+3G>C	ENSP00000507245.1:n.449+3G>C
ENST00000682478.1:n.639+3G>C
ENST00000683576.1:n.639+3G>C
ENST00000683627.1:c.449+3G>C	ENSP00000507533.1:n.449+3G>C
ENST00000684082.1:c.406+3G>C	ENSP00000508266.1:n.406+3G>C
ENST00000684633.1:n.421+3G>C
ENST00000684678.1:c.445+3G>C	ENSP00000507059.1:n.445+3G>C
ENST00000369842.9:c.449+3G>C MANE Select	ENSP00000358857.4:n.449+3G>C
ENST00000369835.3:c.344+3G>C	ENSP00000358850.3:n.344+3G>C
ENST00000369842.8:c.449+3G>C	ENSP00000358857.4:n.449+3G>C
ENST00000428228.5:c.*354+3G>C	ENSP00000401081.1:n.*354+3G>C
ENST00000468294.5:n.412G>C
ENST00000471965.1:n.238+3G>C
ENST00000485261.1:n.642G>C
ENST00000486738.5:n.810G>C
ENST00000492448.1:n.432+3G>C
NM_000117.2:c.449+3G>C , LRG_745t1:c.449+3G>C	NP_000108.1:n.449+3G>C
XM_024452349.1:c.455+3G>C	XP_024308117.1:n.455+3G>C
NM_000117.3:c.449+3G>C MANE Select	NP_000108.1:n.449+3G>C