Canonical Allele Identifier: CA519710119

Gene: EMD

Linked Data

• gnomAD v4: X-154381089-G-A
• MyVariant Identifiers: chrX:g.153609449G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381089G>A , CM000685.2:g.154381089G>A	GRCh38
NC_000023.10:g.153609449G>A , CM000685.1:g.153609449G>A	GRCh37
NC_000023.9:g.153262643G>A	NCBI36
NG_008677.1:g.11654G>A , LRG_745:g.11654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+85G>A	ENSP00000507245.1:n.572+85G>A
ENST00000682478.1:n.762+85G>A
ENST00000683576.1:n.847G>A
ENST00000683627.1:c.657G>A	ENSP00000507533.1:p.Gln219=
ENST00000684082.1:c.614G>A	ENSP00000508266.1:n.614G>A
ENST00000684633.1:n.629G>A
ENST00000684678.1:c.568+85G>A	ENSP00000507059.1:n.568+85G>A
ENST00000369842.9:c.657G>A MANE Select	ENSP00000358857.4:p.Gln219=
ENST00000369835.3:c.552G>A	ENSP00000358850.3:p.Gln184=
ENST00000369842.8:c.657G>A	ENSP00000358857.4:p.Gln219=
ENST00000428228.5:c.*562G>A	ENSP00000401081.1:n.*562G>A
ENST00000471965.1:n.446G>A
ENST00000486738.5:n.1094G>A
ENST00000492448.1:n.640G>A
NM_000117.2:c.657G>A , LRG_745t1:c.657G>A	NP_000108.1:p.Gln219=
XM_024452349.1:c.663G>A	XP_024308117.1:p.Gln221=
NM_000117.3:c.657G>A MANE Select	NP_000108.1:p.Gln219=