Canonical Allele Identifier: CA415258991

Gene: EMD

Linked Data

• ClinVar Variation Id: 433174
• ClinVar RCV Id: RCV000498750 ; RCV000793350
• dbSNP Id: rs1557182661
• MyVariant Identifiers: chrX:g.153609392G>A (hg19) ; chrX:g.154381032G>A (hg38)
• PubMed: PMID:21697856

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381032G>A , CM000685.2:g.154381032G>A	GRCh38
NC_000023.10:g.153609392G>A , CM000685.1:g.153609392G>A	GRCh37
NC_000023.9:g.153262586G>A	NCBI36
NG_008677.1:g.11597G>A , LRG_745:g.11597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+28G>A	ENSP00000507245.1:n.572+28G>A
ENST00000682478.1:n.762+28G>A
ENST00000683576.1:n.790G>A
ENST00000683627.1:c.600G>A	ENSP00000507533.1:p.Trp200Ter
ENST00000684082.1:c.557G>A	ENSP00000508266.1:n.557G>A
ENST00000684633.1:n.572G>A
ENST00000684678.1:c.568+28G>A	ENSP00000507059.1:n.568+28G>A
ENST00000369842.9:c.600G>A MANE Select	ENSP00000358857.4:p.Trp200Ter
ENST00000369835.3:c.495G>A	ENSP00000358850.3:p.Trp165Ter
ENST00000369842.8:c.600G>A	ENSP00000358857.4:p.Trp200Ter
ENST00000428228.5:c.*505G>A	ENSP00000401081.1:n.*505G>A
ENST00000471965.1:n.389G>A
ENST00000486738.5:n.1037G>A
ENST00000492448.1:n.583G>A
NM_000117.2:c.600G>A , LRG_745t1:c.600G>A	NP_000108.1:p.Trp200Ter
XM_024452349.1:c.606G>A	XP_024308117.1:p.Trp202Ter
NM_000117.3:c.600G>A MANE Select	NP_000108.1:p.Trp200Ter