Canonical Allele Identifier: CA10561605

Gene: EMD

Linked Data

• ClinVar Variation Id: 409878
• ClinVar RCV Id: RCV001704560 ; RCV002329064
• dbSNP Id: rs377125466
• ExAC: X:153609145 A / G
• gnomAD v2: X-153609145-A-G
• gnomAD v3: X-154380785-A-G
• gnomAD v4: X-154380785-A-G
• MyVariant Identifiers: chrX:g.153609145A>G (hg19) ; chrX:g.154380785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380785A>G , CM000685.2:g.154380785A>G	GRCh38
NC_000023.10:g.153609145A>G , CM000685.1:g.153609145A>G	GRCh37
NC_000023.9:g.153262339A>G	NCBI36
NG_008677.1:g.11350A>G , LRG_745:g.11350A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.432A>G	ENSP00000507245.1:p.Glu144=
ENST00000682478.1:n.622A>G
ENST00000683576.1:n.622A>G
ENST00000683627.1:c.432A>G	ENSP00000507533.1:p.Glu144=
ENST00000684082.1:c.389A>G	ENSP00000508266.1:n.389A>G
ENST00000684633.1:n.404A>G
ENST00000684678.1:c.428A>G	ENSP00000507059.1:n.428A>G
ENST00000369842.9:c.432A>G MANE Select	ENSP00000358857.4:p.Glu144=
ENST00000369835.3:c.327A>G	ENSP00000358850.3:p.Glu109=
ENST00000369842.8:c.432A>G	ENSP00000358857.4:p.Glu144=
ENST00000428228.5:c.*337A>G	ENSP00000401081.1:n.*337A>G
ENST00000468294.5:n.392A>G
ENST00000471965.1:n.221A>G
ENST00000485261.1:n.622A>G
ENST00000486738.5:n.790A>G
ENST00000492448.1:n.415A>G
NM_000117.2:c.432A>G , LRG_745t1:c.432A>G	NP_000108.1:p.Glu144=
XM_024452349.1:c.438A>G	XP_024308117.1:p.Glu146=
NM_000117.3:c.432A>G MANE Select	NP_000108.1:p.Glu144=