Canonical Allele Identifier: CA519277809
Gene: EMD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153607898G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379538G>T , CM000685.2:g.154379538G>T GRCh38
NC_000023.10:g.153607898G>T , CM000685.1:g.153607898G>T GRCh37
NC_000023.9:g.153261092G>T NCBI36
NG_008677.1:g.10103G>T , LRG_745:g.10103G>T
NG_011506.1:g.109C>A
NG_011506.2:g.101C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.54G>T ENSP00000507245.1:p.Arg18=
ENST00000682478.1:n.30G>T
ENST00000683576.1:n.30G>T
ENST00000683627.1:c.54G>T ENSP00000507533.1:p.Arg18=
ENST00000684082.1:c.54G>T ENSP00000508266.1:p.Arg18=
ENST00000684633.1:n.30G>T
ENST00000684678.1:c.54G>T ENSP00000507059.1:p.Arg18=
ENST00000369842.9:c.54G>T MANE Select ENSP00000358857.4:p.Arg18=
ENST00000369835.3:c.54G>T ENSP00000358850.3:p.Arg18=
ENST00000369842.8:c.54G>T ENSP00000358857.4:p.Arg18=
ENST00000428228.5:c.53+1G>T ENSP00000401081.1:n.53+1G>T
ENST00000468294.5:n.14G>T
ENST00000485261.1:n.135G>T
ENST00000486738.5:n.198G>T
ENST00000494443.5:n.111G>T
NM_000117.2:c.54G>T , LRG_745t1:c.54G>T NP_000108.1:p.Arg18=
XM_024452349.1:c.-155G>T XP_024308117.1:n.-155G>T
NM_000117.3:c.54G>T MANE Select NP_000108.1:p.Arg18=