Canonical Allele Identifier: CA415257462

Gene: EMD

Linked Data

• dbSNP Id: rs1557182298
• gnomAD v2: X-153608101-G-A
• gnomAD v4: X-154379741-G-A
• MyVariant Identifiers: chrX:g.153608101G>A (hg19) ; chrX:g.154379741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379741G>A , CM000685.2:g.154379741G>A	GRCh38
NC_000023.10:g.153608101G>A , CM000685.1:g.153608101G>A	GRCh37
NC_000023.9:g.153261295G>A	NCBI36
NG_008677.1:g.10306G>A , LRG_745:g.10306G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.134G>A	ENSP00000507245.1:p.Arg45Lys
ENST00000682478.1:n.110G>A
ENST00000683576.1:n.110G>A
ENST00000683627.1:c.134G>A	ENSP00000507533.1:p.Arg45Lys
ENST00000684082.1:c.134G>A	ENSP00000508266.1:p.Arg45Lys
ENST00000684633.1:n.106G>A
ENST00000684678.1:c.130G>A	ENSP00000507059.1:p.Gly44Ser
ENST00000369842.9:c.134G>A MANE Select	ENSP00000358857.4:p.Arg45Lys
ENST00000369835.3:c.82+175G>A	ENSP00000358850.3:n.82+175G>A
ENST00000369842.8:c.134G>A	ENSP00000358857.4:p.Arg45Lys
ENST00000428228.5:c.*39G>A	ENSP00000401081.1:n.*39G>A
ENST00000468294.5:n.94G>A
ENST00000485261.1:n.163+175G>A
ENST00000486738.5:n.278G>A
ENST00000492448.1:n.117G>A
ENST00000494443.5:n.191G>A
NM_000117.2:c.134G>A , LRG_745t1:c.134G>A	NP_000108.1:p.Arg45Lys
XM_024452349.1:c.-75G>A	XP_024308117.1:n.-75G>A
NM_000117.3:c.134G>A MANE Select	NP_000108.1:p.Arg45Lys