Canonical Allele Identifier: CA10561630

Gene: EMD

Linked Data

• ClinVar Variation Id: 447314
• ClinVar RCV Id: RCV000516427 ; RCV000726975 ; RCV001081000 ; RCV002350136 ; RCV001834665
• dbSNP Id: rs368661339
• ExAC: X:153609329 G / A
• gnomAD v2: X-153609329-G-A
• gnomAD v3: X-154380969-G-A
• gnomAD v4: X-154380969-G-A
• MyVariant Identifiers: chrX:g.153609329G>A (hg19) ; chrX:g.154380969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380969G>A , CM000685.2:g.154380969G>A	GRCh38
NC_000023.10:g.153609329G>A , CM000685.1:g.153609329G>A	GRCh37
NC_000023.9:g.153262523G>A	NCBI36
NG_008677.1:g.11534G>A , LRG_745:g.11534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.537G>A	ENSP00000507245.1:p.Leu179=
ENST00000682478.1:n.727G>A
ENST00000683576.1:n.727G>A
ENST00000683627.1:c.537G>A	ENSP00000507533.1:p.Leu179=
ENST00000684082.1:c.494G>A	ENSP00000508266.1:n.494G>A
ENST00000684633.1:n.509G>A
ENST00000684678.1:c.533G>A	ENSP00000507059.1:n.533G>A
ENST00000369842.9:c.537G>A MANE Select	ENSP00000358857.4:p.Leu179=
ENST00000369835.3:c.432G>A	ENSP00000358850.3:p.Leu144=
ENST00000369842.8:c.537G>A	ENSP00000358857.4:p.Leu179=
ENST00000428228.5:c.*442G>A	ENSP00000401081.1:n.*442G>A
ENST00000471965.1:n.326G>A
ENST00000486738.5:n.974G>A
ENST00000492448.1:n.520G>A
NM_000117.2:c.537G>A , LRG_745t1:c.537G>A	NP_000108.1:p.Leu179=
XM_024452349.1:c.543G>A	XP_024308117.1:p.Leu181=
NM_000117.3:c.537G>A MANE Select	NP_000108.1:p.Leu179=