Canonical Allele Identifier: CA519277804

Gene: EMD

Linked Data

• gnomAD v4: X-154379535-C-G
• MyVariant Identifiers: chrX:g.153607895C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379535C>G , CM000685.2:g.154379535C>G	GRCh38
NC_000023.10:g.153607895C>G , CM000685.1:g.153607895C>G	GRCh37
NC_000023.9:g.153261089C>G	NCBI36
NG_008677.1:g.10100C>G , LRG_745:g.10100C>G
NG_011506.1:g.112G>C
NG_011506.2:g.104G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.51C>G	ENSP00000507245.1:p.Arg17=
ENST00000682478.1:n.27C>G
ENST00000683576.1:n.27C>G
ENST00000683627.1:c.51C>G	ENSP00000507533.1:p.Arg17=
ENST00000684082.1:c.51C>G	ENSP00000508266.1:p.Arg17=
ENST00000684633.1:n.27C>G
ENST00000684678.1:c.51C>G	ENSP00000507059.1:p.Arg17=
ENST00000369842.9:c.51C>G MANE Select	ENSP00000358857.4:p.Arg17=
ENST00000369835.3:c.51C>G	ENSP00000358850.3:p.Arg17=
ENST00000369842.8:c.51C>G	ENSP00000358857.4:p.Arg17=
ENST00000428228.5:c.51C>G	ENSP00000401081.1:p.Arg17=
ENST00000468294.5:n.11C>G
ENST00000485261.1:n.132C>G
ENST00000486738.5:n.195C>G
ENST00000494443.5:n.108C>G
NM_000117.2:c.51C>G , LRG_745t1:c.51C>G	NP_000108.1:p.Arg17=
XM_024452349.1:c.-158C>G	XP_024308117.1:n.-158C>G
NM_000117.3:c.51C>G MANE Select	NP_000108.1:p.Arg17=