Canonical Allele Identifier: CA337289975

Gene: EMD

Linked Data

• ClinVar Variation Id: 444835
• ClinVar RCV Id: RCV000513465 ; RCV000701008 ; RCV001271614 ; RCV003492086
• dbSNP Id: rs201250825
• gnomAD v2: X-153609113-G-A
• gnomAD v3: X-154380753-G-A
• gnomAD v4: X-154380753-G-A
• MyVariant Identifiers: chrX:g.153609113G>A (hg19) ; chrX:g.154380753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380753G>A , CM000685.2:g.154380753G>A	GRCh38
NC_000023.10:g.153609113G>A , CM000685.1:g.153609113G>A	GRCh37
NC_000023.9:g.153262307G>A	NCBI36
NG_008677.1:g.11318G>A , LRG_745:g.11318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400G>A	ENSP00000507245.1:p.Val134Met
ENST00000682478.1:n.590G>A
ENST00000683576.1:n.590G>A
ENST00000683627.1:c.400G>A	ENSP00000507533.1:p.Val134Met
ENST00000684082.1:c.357G>A	ENSP00000508266.1:n.357G>A
ENST00000684633.1:n.372G>A
ENST00000684678.1:c.396G>A	ENSP00000507059.1:n.396G>A
ENST00000369842.9:c.400G>A MANE Select	ENSP00000358857.4:p.Val134Met
ENST00000369835.3:c.295G>A	ENSP00000358850.3:p.Val99Met
ENST00000369842.8:c.400G>A	ENSP00000358857.4:p.Val134Met
ENST00000428228.5:c.*305G>A	ENSP00000401081.1:n.*305G>A
ENST00000468294.5:n.360G>A
ENST00000471965.1:n.189G>A
ENST00000485261.1:n.590G>A
ENST00000486738.5:n.758G>A
ENST00000492448.1:n.383G>A
NM_000117.2:c.400G>A , LRG_745t1:c.400G>A	NP_000108.1:p.Val134Met
XM_024452349.1:c.406G>A	XP_024308117.1:p.Val136Met
NM_000117.3:c.400G>A MANE Select	NP_000108.1:p.Val134Met