Canonical Allele Identifier: CA519709878
Gene: EMD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153609242G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380882G>A , CM000685.2:g.154380882G>A GRCh38
NC_000023.10:g.153609242G>A , CM000685.1:g.153609242G>A GRCh37
NC_000023.9:g.153262436G>A NCBI36
NG_008677.1:g.11447G>A , LRG_745:g.11447G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.450G>A ENSP00000507245.1:p.Arg150=
ENST00000682478.1:n.640G>A
ENST00000683576.1:n.640G>A
ENST00000683627.1:c.450G>A ENSP00000507533.1:p.Arg150=
ENST00000684082.1:c.407G>A ENSP00000508266.1:n.407G>A
ENST00000684633.1:n.422G>A
ENST00000684678.1:c.446G>A ENSP00000507059.1:n.446G>A
ENST00000369842.9:c.450G>A MANE Select ENSP00000358857.4:p.Arg150=
ENST00000369835.3:c.345G>A ENSP00000358850.3:p.Arg115=
ENST00000369842.8:c.450G>A ENSP00000358857.4:p.Arg150=
ENST00000428228.5:c.*355G>A ENSP00000401081.1:n.*355G>A
ENST00000468294.5:n.489G>A
ENST00000471965.1:n.239G>A
ENST00000485261.1:n.719G>A
ENST00000486738.5:n.887G>A
ENST00000492448.1:n.433G>A
NM_000117.2:c.450G>A , LRG_745t1:c.450G>A NP_000108.1:p.Arg150=
XM_024452349.1:c.456G>A XP_024308117.1:p.Arg152=
NM_000117.3:c.450G>A MANE Select NP_000108.1:p.Arg150=