Canonical Allele Identifier: CA519277858

Gene: EMD

Linked Data

• ClinVar Variation Id: 2036421
• ClinVar RCV Id: RCV002899134
• gnomAD v4: X-154379703-G-A
• MyVariant Identifiers: chrX:g.153608063G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379703G>A , CM000685.2:g.154379703G>A	GRCh38
NC_000023.10:g.153608063G>A , CM000685.1:g.153608063G>A	GRCh37
NC_000023.9:g.153261257G>A	NCBI36
NG_008677.1:g.10268G>A , LRG_745:g.10268G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.96G>A	ENSP00000507245.1:p.Arg32=
ENST00000682478.1:n.72G>A
ENST00000683576.1:n.72G>A
ENST00000683627.1:c.96G>A	ENSP00000507533.1:p.Arg32=
ENST00000684082.1:c.96G>A	ENSP00000508266.1:p.Arg32=
ENST00000684633.1:n.68G>A
ENST00000684678.1:c.92G>A	ENSP00000507059.1:p.Gly31Asp
ENST00000369842.9:c.96G>A MANE Select	ENSP00000358857.4:p.Arg32=
ENST00000369835.3:c.82+137G>A	ENSP00000358850.3:n.82+137G>A
ENST00000369842.8:c.96G>A	ENSP00000358857.4:p.Arg32=
ENST00000428228.5:c.*1G>A	ENSP00000401081.1:n.*1G>A
ENST00000468294.5:n.56G>A
ENST00000485261.1:n.163+137G>A
ENST00000486738.5:n.240G>A
ENST00000492448.1:n.79G>A
ENST00000494443.5:n.153G>A
NM_000117.2:c.96G>A , LRG_745t1:c.96G>A	NP_000108.1:p.Arg32=
XM_024452349.1:c.-113G>A	XP_024308117.1:n.-113G>A
NM_000117.3:c.96G>A MANE Select	NP_000108.1:p.Arg32=