Canonical Allele Identifier: CA519709989

Gene: EMD

Linked Data

• gnomAD v4: X-154380948-C-A
• MyVariant Identifiers: chrX:g.153609308C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380948C>A , CM000685.2:g.154380948C>A	GRCh38
NC_000023.10:g.153609308C>A , CM000685.1:g.153609308C>A	GRCh37
NC_000023.9:g.153262502C>A	NCBI36
NG_008677.1:g.11513C>A , LRG_745:g.11513C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.516C>A	ENSP00000507245.1:p.Ala172=
ENST00000682478.1:n.706C>A
ENST00000683576.1:n.706C>A
ENST00000683627.1:c.516C>A	ENSP00000507533.1:p.Ala172=
ENST00000684082.1:c.473C>A	ENSP00000508266.1:n.473C>A
ENST00000684633.1:n.488C>A
ENST00000684678.1:c.512C>A	ENSP00000507059.1:n.512C>A
ENST00000369842.9:c.516C>A MANE Select	ENSP00000358857.4:p.Ala172=
ENST00000369835.3:c.411C>A	ENSP00000358850.3:p.Ala137=
ENST00000369842.8:c.516C>A	ENSP00000358857.4:p.Ala172=
ENST00000428228.5:c.*421C>A	ENSP00000401081.1:n.*421C>A
ENST00000471965.1:n.305C>A
ENST00000485261.1:n.785C>A
ENST00000486738.5:n.953C>A
ENST00000492448.1:n.499C>A
NM_000117.2:c.516C>A , LRG_745t1:c.516C>A	NP_000108.1:p.Ala172=
XM_024452349.1:c.522C>A	XP_024308117.1:p.Ala174=
NM_000117.3:c.516C>A MANE Select	NP_000108.1:p.Ala172=