Canonical Allele Identifier: CA337288971

Gene: EMD

Linked Data

• dbSNP Id: rs782473164
• gnomAD v3: X-154379635-C-A
• gnomAD v4: X-154379635-C-A
• MyVariant Identifiers: chrX:g.153607995C>A (hg19) ; chrX:g.154379635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379635C>A , CM000685.2:g.154379635C>A	GRCh38
NC_000023.10:g.153607995C>A , CM000685.1:g.153607995C>A	GRCh37
NC_000023.9:g.153261189C>A	NCBI36
NG_008677.1:g.10200C>A , LRG_745:g.10200C>A
NG_011506.1:g.12G>T
NG_011506.2:g.4G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.83-55C>A	ENSP00000507245.1:n.83-55C>A
ENST00000682478.1:n.59-55C>A
ENST00000683576.1:n.59-55C>A
ENST00000683627.1:c.83-55C>A	ENSP00000507533.1:n.83-55C>A
ENST00000684082.1:c.83-55C>A	ENSP00000508266.1:n.83-55C>A
ENST00000684633.1:n.55-55C>A
ENST00000684678.1:c.79-55C>A	ENSP00000507059.1:n.79-55C>A
ENST00000369842.9:c.83-55C>A MANE Select	ENSP00000358857.4:n.83-55C>A
ENST00000369835.3:c.82+69C>A	ENSP00000358850.3:n.82+69C>A
ENST00000369842.8:c.83-55C>A	ENSP00000358857.4:n.83-55C>A
ENST00000428228.5:c.54-55C>A	ENSP00000401081.1:n.54-55C>A
ENST00000468294.5:n.43-55C>A
ENST00000485261.1:n.163+69C>A
ENST00000486738.5:n.227-55C>A
ENST00000492448.1:n.11C>A
ENST00000494443.5:n.140-55C>A
NM_000117.2:c.83-55C>A , LRG_745t1:c.83-55C>A	NP_000108.1:n.83-55C>A
XM_024452349.1:c.-126-55C>A	XP_024308117.1:n.-126-55C>A
NM_000117.3:c.83-55C>A MANE Select	NP_000108.1:n.83-55C>A