Canonical Allele Identifier: CA519277903

Gene: EMD

Linked Data

• gnomAD v4: X-154379754-G-A
• MyVariant Identifiers: chrX:g.153608114G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379754G>A , CM000685.2:g.154379754G>A	GRCh38
NC_000023.10:g.153608114G>A , CM000685.1:g.153608114G>A	GRCh37
NC_000023.9:g.153261308G>A	NCBI36
NG_008677.1:g.10319G>A , LRG_745:g.10319G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.147G>A	ENSP00000507245.1:p.Ser49=
ENST00000682478.1:n.123G>A
ENST00000683576.1:n.123G>A
ENST00000683627.1:c.147G>A	ENSP00000507533.1:p.Ser49=
ENST00000684082.1:c.147G>A	ENSP00000508266.1:p.Ser49=
ENST00000684633.1:n.119G>A
ENST00000684678.1:c.143G>A	ENSP00000507059.1:p.Arg48His
ENST00000369842.9:c.147G>A MANE Select	ENSP00000358857.4:p.Ser49=
ENST00000369835.3:c.83-188G>A	ENSP00000358850.3:n.83-188G>A
ENST00000369842.8:c.147G>A	ENSP00000358857.4:p.Ser49=
ENST00000428228.5:c.*52G>A	ENSP00000401081.1:n.*52G>A
ENST00000468294.5:n.107G>A
ENST00000485261.1:n.164-188G>A
ENST00000486738.5:n.291G>A
ENST00000492448.1:n.130G>A
ENST00000494443.5:n.204G>A
NM_000117.2:c.147G>A , LRG_745t1:c.147G>A	NP_000108.1:p.Ser49=
XM_024452349.1:c.-62G>A	XP_024308117.1:n.-62G>A
NM_000117.3:c.147G>A MANE Select	NP_000108.1:p.Ser49=