Canonical Allele Identifier: CA335168

Gene: EMD

Linked Data

• ClinVar Variation Id: 201780
• ClinVar RCV Id: RCV000465491 ; RCV001827988 ; RCV002390469 ; RCV003491933
• dbSNP Id: rs782222974
• ExAC: X:153608070 G / A
• gnomAD v2: X-153608070-G-A
• gnomAD v3: X-154379710-G-A
• gnomAD v4: X-154379710-G-A
• MyVariant Identifiers: chrX:g.153608070G>A (hg19) ; chrX:g.153608070_153608073delinsAAGA (hg19) ; chrX:g.154379710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379710G>A , CM000685.2:g.154379710G>A	GRCh38
NC_000023.10:g.153608070G>A , CM000685.1:g.153608070G>A	GRCh37
NC_000023.9:g.153261264G>A	NCBI36
NG_008677.1:g.10275G>A , LRG_745:g.10275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.103G>A	ENSP00000507245.1:p.Glu35Lys
ENST00000682478.1:n.79G>A
ENST00000683576.1:n.79G>A
ENST00000683627.1:c.103G>A	ENSP00000507533.1:p.Glu35Lys
ENST00000684082.1:c.103G>A	ENSP00000508266.1:p.Glu35Lys
ENST00000684633.1:n.75G>A
ENST00000684678.1:c.99G>A	ENSP00000507059.1:p.Thr33=
ENST00000369842.9:c.103G>A MANE Select	ENSP00000358857.4:p.Glu35Lys
ENST00000369835.3:c.82+144G>A	ENSP00000358850.3:n.82+144G>A
ENST00000369842.8:c.103G>A	ENSP00000358857.4:p.Glu35Lys
ENST00000428228.5:c.*8G>A	ENSP00000401081.1:n.*8G>A
ENST00000468294.5:n.63G>A
ENST00000485261.1:n.163+144G>A
ENST00000486738.5:n.247G>A
ENST00000492448.1:n.86G>A
ENST00000494443.5:n.160G>A
NM_000117.2:c.103G>A , LRG_745t1:c.103G>A	NP_000108.1:p.Glu35Lys
XM_024452349.1:c.-106G>A	XP_024308117.1:n.-106G>A
NM_000117.3:c.103G>A MANE Select	NP_000108.1:p.Glu35Lys