Canonical Allele Identifier: CA519277946

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608318A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379958A>G , CM000685.2:g.154379958A>G	GRCh38
NC_000023.10:g.153608318A>G , CM000685.1:g.153608318A>G	GRCh37
NC_000023.9:g.153261512A>G	NCBI36
NG_008677.1:g.10523A>G , LRG_745:g.10523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.204A>G	ENSP00000507245.1:p.Arg68=
ENST00000682478.1:n.180A>G
ENST00000683576.1:n.180A>G
ENST00000683627.1:c.204A>G	ENSP00000507533.1:p.Arg68=
ENST00000684082.1:c.204A>G	ENSP00000508266.1:p.Arg68=
ENST00000684633.1:n.176A>G
ENST00000684678.1:c.200A>G	ENSP00000507059.1:n.200A>G
ENST00000369842.9:c.204A>G MANE Select	ENSP00000358857.4:p.Arg68=
ENST00000369835.3:c.99A>G	ENSP00000358850.3:p.Arg33=
ENST00000369842.8:c.204A>G	ENSP00000358857.4:p.Arg68=
ENST00000428228.5:c.*109A>G	ENSP00000401081.1:n.*109A>G
ENST00000468294.5:n.164A>G
ENST00000485261.1:n.180A>G
ENST00000486738.5:n.348A>G
ENST00000492448.1:n.187A>G
ENST00000494443.5:n.261A>G
NM_000117.2:c.204A>G , LRG_745t1:c.204A>G	NP_000108.1:p.Arg68=
XM_024452349.1:c.-5A>G	XP_024308117.1:n.-5A>G
NM_000117.3:c.204A>G MANE Select	NP_000108.1:p.Arg68=