Canonical Allele Identifier: CA10561517

Gene: EMD

Linked Data

• ClinVar Variation Id: 764824
• ClinVar RCV Id: RCV000943189 ; RCV001279589
• dbSNP Id: rs782051850
• ExAC: X:153608120 C / A
• gnomAD v2: X-153608120-C-A
• gnomAD v3: X-154379760-C-A
• gnomAD v4: X-154379760-C-A
• MyVariant Identifiers: chrX:g.153608120C>A (hg19) ; chrX:g.154379760C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379760C>A , CM000685.2:g.154379760C>A	GRCh38
NC_000023.10:g.153608120C>A , CM000685.1:g.153608120C>A	GRCh37
NC_000023.9:g.153261314C>A	NCBI36
NG_008677.1:g.10325C>A , LRG_745:g.10325C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.153C>A	ENSP00000507245.1:p.Pro51=
ENST00000682478.1:n.129C>A
ENST00000683576.1:n.129C>A
ENST00000683627.1:c.153C>A	ENSP00000507533.1:p.Pro51=
ENST00000684082.1:c.153C>A	ENSP00000508266.1:p.Pro51=
ENST00000684633.1:n.125C>A
ENST00000684678.1:c.149C>A	ENSP00000507059.1:p.Pro50Gln
ENST00000369842.9:c.153C>A MANE Select	ENSP00000358857.4:p.Pro51=
ENST00000369835.3:c.83-182C>A	ENSP00000358850.3:n.83-182C>A
ENST00000369842.8:c.153C>A	ENSP00000358857.4:p.Pro51=
ENST00000428228.5:c.*58C>A	ENSP00000401081.1:n.*58C>A
ENST00000468294.5:n.113C>A
ENST00000485261.1:n.164-182C>A
ENST00000486738.5:n.297C>A
ENST00000492448.1:n.136C>A
ENST00000494443.5:n.210C>A
NM_000117.2:c.153C>A , LRG_745t1:c.153C>A	NP_000108.1:p.Pro51=
XM_024452349.1:c.-56C>A	XP_024308117.1:n.-56C>A
NM_000117.3:c.153C>A MANE Select	NP_000108.1:p.Pro51=