Canonical Allele Identifier: CA2466664020

Gene: EMD

Linked Data

• dbSNP Id: rs2067878323
• gnomAD v4: X-154380132-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380132G>A , CM000685.2:g.154380132G>A	GRCh38
NC_000023.10:g.153608492G>A , CM000685.1:g.153608492G>A	GRCh37
NC_000023.9:g.153261686G>A	NCBI36
NG_008677.1:g.10697G>A , LRG_745:g.10697G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.266-102G>A	ENSP00000507245.1:n.266-102G>A
ENST00000682478.1:n.354G>A
ENST00000683576.1:n.354G>A
ENST00000683627.1:c.266-102G>A	ENSP00000507533.1:n.266-102G>A
ENST00000684082.1:c.265+113G>A	ENSP00000508266.1:n.265+113G>A
ENST00000684633.1:n.238-102G>A
ENST00000684678.1:c.262-102G>A	ENSP00000507059.1:n.262-102G>A
ENST00000369842.9:c.266-102G>A MANE Select	ENSP00000358857.4:n.266-102G>A
ENST00000369835.3:c.161-102G>A	ENSP00000358850.3:n.161-102G>A
ENST00000369842.8:c.266-102G>A	ENSP00000358857.4:n.266-102G>A
ENST00000428228.5:c.*171-102G>A	ENSP00000401081.1:n.*171-102G>A
ENST00000468294.5:n.226-102G>A
ENST00000485261.1:n.354G>A
ENST00000486738.5:n.522G>A
ENST00000492448.1:n.249-102G>A
ENST00000494443.5:n.435G>A
NM_000117.2:c.266-102G>A , LRG_745t1:c.266-102G>A	NP_000108.1:n.266-102G>A
XM_024452349.1:c.170G>A	XP_024308117.1:p.Gly57Glu
NM_000117.3:c.266-102G>A MANE Select	NP_000108.1:n.266-102G>A