Canonical Allele Identifier: CA10561607

Gene: EMD

Linked Data

• ClinVar Variation Id: 384418
• ClinVar RCV Id: RCV000421217 ; RCV000866390
• dbSNP Id: rs781889750
• ExAC: X:153609157 G / A
• gnomAD v2: X-153609157-G-A
• gnomAD v3: X-154380797-G-A
• gnomAD v4: X-154380797-G-A
• MyVariant Identifiers: chrX:g.153609157G>A (hg19) ; chrX:g.154380797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380797G>A , CM000685.2:g.154380797G>A	GRCh38
NC_000023.10:g.153609157G>A , CM000685.1:g.153609157G>A	GRCh37
NC_000023.9:g.153262351G>A	NCBI36
NG_008677.1:g.11362G>A , LRG_745:g.11362G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.444G>A	ENSP00000507245.1:p.Lys148=
ENST00000682478.1:n.634G>A
ENST00000683576.1:n.634G>A
ENST00000683627.1:c.444G>A	ENSP00000507533.1:p.Lys148=
ENST00000684082.1:c.401G>A	ENSP00000508266.1:n.401G>A
ENST00000684633.1:n.416G>A
ENST00000684678.1:c.440G>A	ENSP00000507059.1:n.440G>A
ENST00000369842.9:c.444G>A MANE Select	ENSP00000358857.4:p.Lys148=
ENST00000369835.3:c.339G>A	ENSP00000358850.3:p.Lys113=
ENST00000369842.8:c.444G>A	ENSP00000358857.4:p.Lys148=
ENST00000428228.5:c.*349G>A	ENSP00000401081.1:n.*349G>A
ENST00000468294.5:n.404G>A
ENST00000471965.1:n.233G>A
ENST00000485261.1:n.634G>A
ENST00000486738.5:n.802G>A
ENST00000492448.1:n.427G>A
NM_000117.2:c.444G>A , LRG_745t1:c.444G>A	NP_000108.1:p.Lys148=
XM_024452349.1:c.450G>A	XP_024308117.1:p.Lys150=
NM_000117.3:c.444G>A MANE Select	NP_000108.1:p.Lys148=