Canonical Allele Identifier: CA415258322

Gene: EMD

Linked Data

• ClinVar Variation Id: 2627908
• ClinVar RCV Id: RCV003389291
• MyVariant Identifiers: chrX:g.153609154C>A (hg19) ; chrX:g.154380794C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380794C>A , CM000685.2:g.154380794C>A	GRCh38
NC_000023.10:g.153609154C>A , CM000685.1:g.153609154C>A	GRCh37
NC_000023.9:g.153262348C>A	NCBI36
NG_008677.1:g.11359C>A , LRG_745:g.11359C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.441C>A	ENSP00000507245.1:p.Cys147Ter
ENST00000682478.1:n.631C>A
ENST00000683576.1:n.631C>A
ENST00000683627.1:c.441C>A	ENSP00000507533.1:p.Cys147Ter
ENST00000684082.1:c.398C>A	ENSP00000508266.1:n.398C>A
ENST00000684633.1:n.413C>A
ENST00000684678.1:c.437C>A	ENSP00000507059.1:n.437C>A
ENST00000369842.9:c.441C>A MANE Select	ENSP00000358857.4:p.Cys147Ter
ENST00000369835.3:c.336C>A	ENSP00000358850.3:p.Cys112Ter
ENST00000369842.8:c.441C>A	ENSP00000358857.4:p.Cys147Ter
ENST00000428228.5:c.*346C>A	ENSP00000401081.1:n.*346C>A
ENST00000468294.5:n.401C>A
ENST00000471965.1:n.230C>A
ENST00000485261.1:n.631C>A
ENST00000486738.5:n.799C>A
ENST00000492448.1:n.424C>A
NM_000117.2:c.441C>A , LRG_745t1:c.441C>A	NP_000108.1:p.Cys147Ter
XM_024452349.1:c.447C>A	XP_024308117.1:p.Cys149Ter
NM_000117.3:c.441C>A MANE Select	NP_000108.1:p.Cys147Ter