Canonical Allele Identifier: CA415257200

Gene: EMD

Linked Data

• ClinVar Variation Id: 433166
• ClinVar RCV Id: RCV000497910
• dbSNP Id: rs1557182214
• MyVariant Identifiers: chrX:g.153607927G>T (hg19) ; chrX:g.154379567G>T (hg38)
• PubMed: PMID:8595433

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379567G>T , CM000685.2:g.154379567G>T	GRCh38
NC_000023.10:g.153607927G>T , CM000685.1:g.153607927G>T	GRCh37
NC_000023.9:g.153261121G>T	NCBI36
NG_008677.1:g.10132G>T , LRG_745:g.10132G>T
NG_011506.1:g.80C>A
NG_011506.2:g.72C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.82+1G>T	ENSP00000507245.1:n.82+1G>T
ENST00000682478.1:n.58+1G>T
ENST00000683576.1:n.58+1G>T
ENST00000683627.1:c.82+1G>T	ENSP00000507533.1:n.82+1G>T
ENST00000684082.1:c.82+1G>T	ENSP00000508266.1:n.82+1G>T
ENST00000684633.1:n.54+5G>T
ENST00000684678.1:c.78+5G>T	ENSP00000507059.1:n.78+5G>T
ENST00000369842.9:c.82+1G>T MANE Select	ENSP00000358857.4:n.82+1G>T
ENST00000369835.3:c.82+1G>T	ENSP00000358850.3:n.82+1G>T
ENST00000369842.8:c.82+1G>T	ENSP00000358857.4:n.82+1G>T
ENST00000428228.5:c.53+30G>T	ENSP00000401081.1:n.53+30G>T
ENST00000468294.5:n.42+1G>T
ENST00000485261.1:n.163+1G>T
ENST00000486738.5:n.226+1G>T
ENST00000494443.5:n.139+1G>T
NM_000117.2:c.82+1G>T , LRG_745t1:c.82+1G>T	NP_000108.1:n.82+1G>T
XM_024452349.1:c.-127+1G>T	XP_024308117.1:n.-127+1G>T
NM_000117.3:c.82+1G>T MANE Select	NP_000108.1:n.82+1G>T