Canonical Allele Identifier: CA2695115052

Gene: EMD

Linked Data

• gnomAD v4: X-154379589-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379589C>A , CM000685.2:g.154379589C>A	GRCh38
NC_000023.10:g.153607949C>A , CM000685.1:g.153607949C>A	GRCh37
NC_000023.9:g.153261143C>A	NCBI36
NG_008677.1:g.10154C>A , LRG_745:g.10154C>A
NG_011506.1:g.58G>T
NG_011506.2:g.50G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.82+23C>A	ENSP00000507245.1:n.82+23C>A
ENST00000682478.1:n.58+23C>A
ENST00000683576.1:n.58+23C>A
ENST00000683627.1:c.82+23C>A	ENSP00000507533.1:n.82+23C>A
ENST00000684082.1:c.82+23C>A	ENSP00000508266.1:n.82+23C>A
ENST00000684633.1:n.54+27C>A
ENST00000684678.1:c.78+27C>A	ENSP00000507059.1:n.78+27C>A
ENST00000369842.9:c.82+23C>A MANE Select	ENSP00000358857.4:n.82+23C>A
ENST00000369835.3:c.82+23C>A	ENSP00000358850.3:n.82+23C>A
ENST00000369842.8:c.82+23C>A	ENSP00000358857.4:n.82+23C>A
ENST00000428228.5:c.53+52C>A	ENSP00000401081.1:n.53+52C>A
ENST00000468294.5:n.42+23C>A
ENST00000485261.1:n.163+23C>A
ENST00000486738.5:n.226+23C>A
ENST00000494443.5:n.139+23C>A
NM_000117.2:c.82+23C>A , LRG_745t1:c.82+23C>A	NP_000108.1:n.82+23C>A
XM_024452349.1:c.-127+23C>A	XP_024308117.1:n.-127+23C>A
NM_000117.3:c.82+23C>A MANE Select	NP_000108.1:n.82+23C>A