Canonical Allele Identifier: CA519277914

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608126G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379766G>C , CM000685.2:g.154379766G>C	GRCh38
NC_000023.10:g.153608126G>C , CM000685.1:g.153608126G>C	GRCh37
NC_000023.9:g.153261320G>C	NCBI36
NG_008677.1:g.10331G>C , LRG_745:g.10331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.159G>C	ENSP00000507245.1:p.Ser53=
ENST00000682478.1:n.135G>C
ENST00000683576.1:n.135G>C
ENST00000683627.1:c.159G>C	ENSP00000507533.1:p.Ser53=
ENST00000684082.1:c.159G>C	ENSP00000508266.1:p.Ser53=
ENST00000684633.1:n.131G>C
ENST00000684678.1:c.155G>C	ENSP00000507059.1:p.Arg52Pro
ENST00000369842.9:c.159G>C MANE Select	ENSP00000358857.4:p.Ser53=
ENST00000369835.3:c.83-176G>C	ENSP00000358850.3:n.83-176G>C
ENST00000369842.8:c.159G>C	ENSP00000358857.4:p.Ser53=
ENST00000428228.5:c.*64G>C	ENSP00000401081.1:n.*64G>C
ENST00000468294.5:n.119G>C
ENST00000485261.1:n.164-176G>C
ENST00000486738.5:n.303G>C
ENST00000492448.1:n.142G>C
ENST00000494443.5:n.216G>C
NM_000117.2:c.159G>C , LRG_745t1:c.159G>C	NP_000108.1:p.Ser53=
XM_024452349.1:c.-50G>C	XP_024308117.1:n.-50G>C
NM_000117.3:c.159G>C MANE Select	NP_000108.1:p.Ser53=