Canonical Allele Identifier: CA415259057

Gene: EMD

Linked Data

• ClinVar Variation Id: 1491927
• ClinVar RCV Id: RCV002010192
• dbSNP Id: rs782193940
• gnomAD v4: X-154381063-C-G
• MyVariant Identifiers: chrX:g.153609423C>G (hg19) ; chrX:g.154381063C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381063C>G , CM000685.2:g.154381063C>G	GRCh38
NC_000023.10:g.153609423C>G , CM000685.1:g.153609423C>G	GRCh37
NC_000023.9:g.153262617C>G	NCBI36
NG_008677.1:g.11628C>G , LRG_745:g.11628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+59C>G	ENSP00000507245.1:n.572+59C>G
ENST00000682478.1:n.762+59C>G
ENST00000683576.1:n.821C>G
ENST00000683627.1:c.631C>G	ENSP00000507533.1:p.Arg211Gly
ENST00000684082.1:c.588C>G	ENSP00000508266.1:n.588C>G
ENST00000684633.1:n.603C>G
ENST00000684678.1:c.568+59C>G	ENSP00000507059.1:n.568+59C>G
ENST00000369842.9:c.631C>G MANE Select	ENSP00000358857.4:p.Arg211Gly
ENST00000369835.3:c.526C>G	ENSP00000358850.3:p.Arg176Gly
ENST00000369842.8:c.631C>G	ENSP00000358857.4:p.Arg211Gly
ENST00000428228.5:c.*536C>G	ENSP00000401081.1:n.*536C>G
ENST00000471965.1:n.420C>G
ENST00000486738.5:n.1068C>G
ENST00000492448.1:n.614C>G
NM_000117.2:c.631C>G , LRG_745t1:c.631C>G	NP_000108.1:p.Arg211Gly
XM_024452349.1:c.637C>G	XP_024308117.1:p.Arg213Gly
NM_000117.3:c.631C>G MANE Select	NP_000108.1:p.Arg211Gly