Canonical Allele Identifier: CA131118

Gene: EMD

Linked Data

• ClinVar Variation Id: 42272
• ClinVar RCV Id: RCV000035105 ; RCV000770588 ; RCV002426545 ; RCV000756071 ; RCV001085397
• dbSNP Id: rs137977232
• ExAC: X:153608600 A / G
• gnomAD v2: X-153608600-A-G
• gnomAD v3: X-154380240-A-G
• gnomAD v4: X-154380240-A-G
• MyVariant Identifiers: chrX:g.153608600A>G (hg19) ; chrX:g.154380240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380240A>G , CM000685.2:g.154380240A>G	GRCh38
NC_000023.10:g.153608600A>G , CM000685.1:g.153608600A>G	GRCh37
NC_000023.9:g.153261794A>G	NCBI36
NG_008677.1:g.10805A>G , LRG_745:g.10805A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.272A>G	ENSP00000507245.1:p.Asn91Ser
ENST00000682478.1:n.462A>G
ENST00000683576.1:n.462A>G
ENST00000683627.1:c.272A>G	ENSP00000507533.1:p.Asn91Ser
ENST00000684082.1:c.266-37A>G	ENSP00000508266.1:n.266-37A>G
ENST00000684633.1:n.244A>G
ENST00000684678.1:c.268A>G	ENSP00000507059.1:n.268A>G
ENST00000369842.9:c.272A>G MANE Select	ENSP00000358857.4:p.Asn91Ser
ENST00000369835.3:c.167A>G	ENSP00000358850.3:p.Asn56Ser
ENST00000369842.8:c.272A>G	ENSP00000358857.4:p.Asn91Ser
ENST00000428228.5:c.*177A>G	ENSP00000401081.1:n.*177A>G
ENST00000468294.5:n.232A>G
ENST00000485261.1:n.462A>G
ENST00000486738.5:n.630A>G
ENST00000492448.1:n.255A>G
ENST00000494443.5:n.543A>G
NM_000117.2:c.272A>G , LRG_745t1:c.272A>G	NP_000108.1:p.Asn91Ser
XM_024452349.1:c.278A>G	XP_024308117.1:p.Asn93Ser
NM_000117.3:c.272A>G MANE Select	NP_000108.1:p.Asn91Ser