Canonical Allele Identifier: CA2695115360

Gene: EMD

Linked Data

• gnomAD v4: X-154380819-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380819C>T , CM000685.2:g.154380819C>T	GRCh38
NC_000023.10:g.153609179C>T , CM000685.1:g.153609179C>T	GRCh37
NC_000023.9:g.153262373C>T	NCBI36
NG_008677.1:g.11384C>T , LRG_745:g.11384C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.449+17C>T	ENSP00000507245.1:n.449+17C>T
ENST00000682478.1:n.639+17C>T
ENST00000683576.1:n.639+17C>T
ENST00000683627.1:c.449+17C>T	ENSP00000507533.1:n.449+17C>T
ENST00000684082.1:c.406+17C>T	ENSP00000508266.1:n.406+17C>T
ENST00000684633.1:n.421+17C>T
ENST00000684678.1:c.445+17C>T	ENSP00000507059.1:n.445+17C>T
ENST00000369842.9:c.449+17C>T MANE Select	ENSP00000358857.4:n.449+17C>T
ENST00000369835.3:c.344+17C>T	ENSP00000358850.3:n.344+17C>T
ENST00000369842.8:c.449+17C>T	ENSP00000358857.4:n.449+17C>T
ENST00000428228.5:c.*354+17C>T	ENSP00000401081.1:n.*354+17C>T
ENST00000468294.5:n.426C>T
ENST00000471965.1:n.238+17C>T
ENST00000485261.1:n.656C>T
ENST00000486738.5:n.824C>T
ENST00000492448.1:n.432+17C>T
NM_000117.2:c.449+17C>T , LRG_745t1:c.449+17C>T	NP_000108.1:n.449+17C>T
XM_024452349.1:c.455+17C>T	XP_024308117.1:n.455+17C>T
NM_000117.3:c.449+17C>T MANE Select	NP_000108.1:n.449+17C>T