Canonical Allele Identifier: CA10561546

Gene: EMD

Linked Data

• ClinVar Variation Id: 755785
• ClinVar RCV Id: RCV000933240 ; RCV001726375 ; RCV001700511 ; RCV001832125
• dbSNP Id: rs781889152
• ExAC: X:153608348 G / A
• gnomAD v2: X-153608348-G-A
• gnomAD v3: X-154379988-G-A
• gnomAD v4: X-154379988-G-A
• MyVariant Identifiers: chrX:g.153608348G>A (hg19) ; chrX:g.154379988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379988G>A , CM000685.2:g.154379988G>A	GRCh38
NC_000023.10:g.153608348G>A , CM000685.1:g.153608348G>A	GRCh37
NC_000023.9:g.153261542G>A	NCBI36
NG_008677.1:g.10553G>A , LRG_745:g.10553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.234G>A	ENSP00000507245.1:p.Lys78=
ENST00000682478.1:n.210G>A
ENST00000683576.1:n.210G>A
ENST00000683627.1:c.234G>A	ENSP00000507533.1:p.Lys78=
ENST00000684082.1:c.234G>A	ENSP00000508266.1:p.Lys78=
ENST00000684633.1:n.206G>A
ENST00000684678.1:c.230G>A	ENSP00000507059.1:n.230G>A
ENST00000369842.9:c.234G>A MANE Select	ENSP00000358857.4:p.Lys78=
ENST00000369835.3:c.129G>A	ENSP00000358850.3:p.Lys43=
ENST00000369842.8:c.234G>A	ENSP00000358857.4:p.Lys78=
ENST00000428228.5:c.*139G>A	ENSP00000401081.1:n.*139G>A
ENST00000468294.5:n.194G>A
ENST00000485261.1:n.210G>A
ENST00000486738.5:n.378G>A
ENST00000492448.1:n.217G>A
ENST00000494443.5:n.291G>A
NM_000117.2:c.234G>A , LRG_745t1:c.234G>A	NP_000108.1:p.Lys78=
XM_024452349.1:c.26G>A	XP_024308117.1:p.Arg9Lys
NM_000117.3:c.234G>A MANE Select	NP_000108.1:p.Lys78=