Canonical Allele Identifier: CA519709894
Gene: EMD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153609248C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380888C>A , CM000685.2:g.154380888C>A GRCh38
NC_000023.10:g.153609248C>A , CM000685.1:g.153609248C>A GRCh37
NC_000023.9:g.153262442C>A NCBI36
NG_008677.1:g.11453C>A , LRG_745:g.11453C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.456C>A ENSP00000507245.1:p.Arg152=
ENST00000682478.1:n.646C>A
ENST00000683576.1:n.646C>A
ENST00000683627.1:c.456C>A ENSP00000507533.1:p.Arg152=
ENST00000684082.1:c.413C>A ENSP00000508266.1:n.413C>A
ENST00000684633.1:n.428C>A
ENST00000684678.1:c.452C>A ENSP00000507059.1:n.452C>A
ENST00000369842.9:c.456C>A MANE Select ENSP00000358857.4:p.Arg152=
ENST00000369835.3:c.351C>A ENSP00000358850.3:p.Arg117=
ENST00000369842.8:c.456C>A ENSP00000358857.4:p.Arg152=
ENST00000428228.5:c.*361C>A ENSP00000401081.1:n.*361C>A
ENST00000468294.5:n.495C>A
ENST00000471965.1:n.245C>A
ENST00000485261.1:n.725C>A
ENST00000486738.5:n.893C>A
ENST00000492448.1:n.439C>A
NM_000117.2:c.456C>A , LRG_745t1:c.456C>A NP_000108.1:p.Arg152=
XM_024452349.1:c.462C>A XP_024308117.1:p.Arg154=
NM_000117.3:c.456C>A MANE Select NP_000108.1:p.Arg152=