Canonical Allele Identifier: CA415257302

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608059G>A (hg19) ; chrX:g.154379699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379699G>A , CM000685.2:g.154379699G>A	GRCh38
NC_000023.10:g.153608059G>A , CM000685.1:g.153608059G>A	GRCh37
NC_000023.9:g.153261253G>A	NCBI36
NG_008677.1:g.10264G>A , LRG_745:g.10264G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.92G>A	ENSP00000507245.1:p.Arg31His
ENST00000682478.1:n.68G>A
ENST00000683576.1:n.68G>A
ENST00000683627.1:c.92G>A	ENSP00000507533.1:p.Arg31His
ENST00000684082.1:c.92G>A	ENSP00000508266.1:p.Arg31His
ENST00000684633.1:n.64G>A
ENST00000684678.1:c.88G>A	ENSP00000507059.1:p.Val30Ile
ENST00000369842.9:c.92G>A MANE Select	ENSP00000358857.4:p.Arg31His
ENST00000369835.3:c.82+133G>A	ENSP00000358850.3:n.82+133G>A
ENST00000369842.8:c.92G>A	ENSP00000358857.4:p.Arg31His
ENST00000428228.5:c.63G>A	ENSP00000401081.1:p.Ser21=
ENST00000468294.5:n.52G>A
ENST00000485261.1:n.163+133G>A
ENST00000486738.5:n.236G>A
ENST00000492448.1:n.75G>A
ENST00000494443.5:n.149G>A
NM_000117.2:c.92G>A , LRG_745t1:c.92G>A	NP_000108.1:p.Arg31His
XM_024452349.1:c.-117G>A	XP_024308117.1:n.-117G>A
NM_000117.3:c.92G>A MANE Select	NP_000108.1:p.Arg31His