Canonical Allele Identifier: CA2579738989

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380823G>C , CM000685.2:g.154380823G>C	GRCh38
NC_000023.10:g.153609183G>C , CM000685.1:g.153609183G>C	GRCh37
NC_000023.9:g.153262377G>C	NCBI36
NG_008677.1:g.11388G>C , LRG_745:g.11388G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.449+21G>C	ENSP00000507245.1:n.449+21G>C
ENST00000682478.1:n.639+21G>C
ENST00000683576.1:n.639+21G>C
ENST00000683627.1:c.449+21G>C	ENSP00000507533.1:n.449+21G>C
ENST00000684082.1:c.406+21G>C	ENSP00000508266.1:n.406+21G>C
ENST00000684633.1:n.421+21G>C
ENST00000684678.1:c.445+21G>C	ENSP00000507059.1:n.445+21G>C
ENST00000369842.9:c.449+21G>C MANE Select	ENSP00000358857.4:n.449+21G>C
ENST00000369835.3:c.344+21G>C	ENSP00000358850.3:n.344+21G>C
ENST00000369842.8:c.449+21G>C	ENSP00000358857.4:n.449+21G>C
ENST00000428228.5:c.*354+21G>C	ENSP00000401081.1:n.*354+21G>C
ENST00000468294.5:n.430G>C
ENST00000471965.1:n.238+21G>C
ENST00000485261.1:n.660G>C
ENST00000486738.5:n.828G>C
ENST00000492448.1:n.432+21G>C
NM_000117.2:c.449+21G>C , LRG_745t1:c.449+21G>C	NP_000108.1:n.449+21G>C
XM_024452349.1:c.455+21G>C	XP_024308117.1:n.455+21G>C
NM_000117.3:c.449+21G>C MANE Select	NP_000108.1:n.449+21G>C