Canonical Allele Identifier: CA273149
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 163403
ClinVar RCV Id: RCV000150647 RCV000727586 RCV001280616
dbSNP Id: rs727503036
MyVariant Identifiers: chrX:g.153608592A>G (hg19) chrX:g.154380232A>G (hg38)
PubMed: PMID:1178008 PMID:1998333 PMID:7294729 PMID:8595407 PMID:10382909 PMID:10428430
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380232A>G , CM000685.2:g.154380232A>G GRCh38
NC_000023.10:g.153608592A>G , CM000685.1:g.153608592A>G GRCh37
NC_000023.9:g.153261786A>G NCBI36
NG_008677.1:g.10797A>G , LRG_745:g.10797A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.266-2A>G ENSP00000507245.1:n.266-2A>G
ENST00000682478.1:n.454A>G
ENST00000683576.1:n.454A>G
ENST00000683627.1:c.266-2A>G ENSP00000507533.1:n.266-2A>G
ENST00000684082.1:c.266-45A>G ENSP00000508266.1:n.266-45A>G
ENST00000684633.1:n.238-2A>G
ENST00000684678.1:c.262-2A>G ENSP00000507059.1:n.262-2A>G
ENST00000369842.9:c.266-2A>G MANE Select ENSP00000358857.4:n.266-2A>G
ENST00000369835.3:c.161-2A>G ENSP00000358850.3:n.161-2A>G
ENST00000369842.8:c.266-2A>G ENSP00000358857.4:n.266-2A>G
ENST00000428228.5:c.*171-2A>G ENSP00000401081.1:n.*171-2A>G
ENST00000468294.5:n.226-2A>G
ENST00000485261.1:n.454A>G
ENST00000486738.5:n.622A>G
ENST00000492448.1:n.249-2A>G
ENST00000494443.5:n.535A>G
NM_000117.2:c.266-2A>G , LRG_745t1:c.266-2A>G NP_000108.1:n.266-2A>G
XM_024452349.1:c.270A>G XP_024308117.1:p.Gln90=
NM_000117.3:c.266-2A>G MANE Select NP_000108.1:n.266-2A>G
Search 100 bp 5'
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