Canonical Allele Identifier: CA519710122

Gene: EMD

Linked Data

• gnomAD v4: X-154381095-C-G
• MyVariant Identifiers: chrX:g.153609455C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381095C>G , CM000685.2:g.154381095C>G	GRCh38
NC_000023.10:g.153609455C>G , CM000685.1:g.153609455C>G	GRCh37
NC_000023.9:g.153262649C>G	NCBI36
NG_008677.1:g.11660C>G , LRG_745:g.11660C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+91C>G	ENSP00000507245.1:n.572+91C>G
ENST00000682478.1:n.762+91C>G
ENST00000683576.1:n.853C>G
ENST00000683627.1:c.663C>G	ENSP00000507533.1:p.Arg221=
ENST00000684082.1:c.620C>G	ENSP00000508266.1:n.620C>G
ENST00000684633.1:n.635C>G
ENST00000684678.1:c.568+91C>G	ENSP00000507059.1:n.568+91C>G
ENST00000369842.9:c.663C>G MANE Select	ENSP00000358857.4:p.Arg221=
ENST00000369835.3:c.558C>G	ENSP00000358850.3:p.Arg186=
ENST00000369842.8:c.663C>G	ENSP00000358857.4:p.Arg221=
ENST00000428228.5:c.*568C>G	ENSP00000401081.1:n.*568C>G
ENST00000471965.1:n.452C>G
ENST00000486738.5:n.1100C>G
ENST00000492448.1:n.646C>G
NM_000117.2:c.663C>G , LRG_745t1:c.663C>G	NP_000108.1:p.Arg221=
XM_024452349.1:c.669C>G	XP_024308117.1:p.Arg223=
NM_000117.3:c.663C>G MANE Select	NP_000108.1:p.Arg221=