Canonical Allele Identifier: CA519277976

Gene: EMD

Linked Data

• gnomAD v4: X-154380006-C-G
• MyVariant Identifiers: chrX:g.153608366C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380006C>G , CM000685.2:g.154380006C>G	GRCh38
NC_000023.10:g.153608366C>G , CM000685.1:g.153608366C>G	GRCh37
NC_000023.9:g.153261560C>G	NCBI36
NG_008677.1:g.10571C>G , LRG_745:g.10571C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.252C>G	ENSP00000507245.1:p.Leu84=
ENST00000682478.1:n.228C>G
ENST00000683576.1:n.228C>G
ENST00000683627.1:c.252C>G	ENSP00000507533.1:p.Leu84=
ENST00000684082.1:c.252C>G	ENSP00000508266.1:p.Leu84=
ENST00000684633.1:n.224C>G
ENST00000684678.1:c.248C>G	ENSP00000507059.1:n.248C>G
ENST00000369842.9:c.252C>G MANE Select	ENSP00000358857.4:p.Leu84=
ENST00000369835.3:c.147C>G	ENSP00000358850.3:p.Leu49=
ENST00000369842.8:c.252C>G	ENSP00000358857.4:p.Leu84=
ENST00000428228.5:c.*157C>G	ENSP00000401081.1:n.*157C>G
ENST00000468294.5:n.212C>G
ENST00000485261.1:n.228C>G
ENST00000486738.5:n.396C>G
ENST00000492448.1:n.235C>G
ENST00000494443.5:n.309C>G
NM_000117.2:c.252C>G , LRG_745t1:c.252C>G	NP_000108.1:p.Leu84=
XM_024452349.1:c.44C>G	XP_024308117.1:p.Ser15Cys
NM_000117.3:c.252C>G MANE Select	NP_000108.1:p.Leu84=