Canonical Allele Identifier: CA2739273887

Gene: EMD

Linked Data

• ClinVar Variation Id: 2861188
• ClinVar RCV Id: RCV003638129

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380820C>A , CM000685.2:g.154380820C>A	GRCh38
NC_000023.10:g.153609180C>A , CM000685.1:g.153609180C>A	GRCh37
NC_000023.9:g.153262374C>A	NCBI36
NG_008677.1:g.11385C>A , LRG_745:g.11385C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.449+18C>A	ENSP00000507245.1:n.449+18C>A
ENST00000682478.1:n.639+18C>A
ENST00000683576.1:n.639+18C>A
ENST00000683627.1:c.449+18C>A	ENSP00000507533.1:n.449+18C>A
ENST00000684082.1:c.406+18C>A	ENSP00000508266.1:n.406+18C>A
ENST00000684633.1:n.421+18C>A
ENST00000684678.1:c.445+18C>A	ENSP00000507059.1:n.445+18C>A
ENST00000369842.9:c.449+18C>A MANE Select	ENSP00000358857.4:n.449+18C>A
ENST00000369835.3:c.344+18C>A	ENSP00000358850.3:n.344+18C>A
ENST00000369842.8:c.449+18C>A	ENSP00000358857.4:n.449+18C>A
ENST00000428228.5:c.*354+18C>A	ENSP00000401081.1:n.*354+18C>A
ENST00000468294.5:n.427C>A
ENST00000471965.1:n.238+18C>A
ENST00000485261.1:n.657C>A
ENST00000486738.5:n.825C>A
ENST00000492448.1:n.432+18C>A
NM_000117.2:c.449+18C>A , LRG_745t1:c.449+18C>A	NP_000108.1:n.449+18C>A
XM_024452349.1:c.455+18C>A	XP_024308117.1:n.455+18C>A
NM_000117.3:c.449+18C>A MANE Select	NP_000108.1:n.449+18C>A