Canonical Allele Identifier: CA415258683

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609314G>T (hg19) ; chrX:g.154380954G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380954G>T , CM000685.2:g.154380954G>T	GRCh38
NC_000023.10:g.153609314G>T , CM000685.1:g.153609314G>T	GRCh37
NC_000023.9:g.153262508G>T	NCBI36
NG_008677.1:g.11519G>T , LRG_745:g.11519G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.522G>T	ENSP00000507245.1:p.Arg174Ser
ENST00000682478.1:n.712G>T
ENST00000683576.1:n.712G>T
ENST00000683627.1:c.522G>T	ENSP00000507533.1:p.Arg174Ser
ENST00000684082.1:c.479G>T	ENSP00000508266.1:n.479G>T
ENST00000684633.1:n.494G>T
ENST00000684678.1:c.518G>T	ENSP00000507059.1:n.518G>T
ENST00000369842.9:c.522G>T MANE Select	ENSP00000358857.4:p.Arg174Ser
ENST00000369835.3:c.417G>T	ENSP00000358850.3:p.Arg139Ser
ENST00000369842.8:c.522G>T	ENSP00000358857.4:p.Arg174Ser
ENST00000428228.5:c.*427G>T	ENSP00000401081.1:n.*427G>T
ENST00000471965.1:n.311G>T
ENST00000485261.1:n.791G>T
ENST00000486738.5:n.959G>T
ENST00000492448.1:n.505G>T
NM_000117.2:c.522G>T , LRG_745t1:c.522G>T	NP_000108.1:p.Arg174Ser
XM_024452349.1:c.528G>T	XP_024308117.1:p.Arg176Ser
NM_000117.3:c.522G>T MANE Select	NP_000108.1:p.Arg174Ser