Canonical Allele Identifier: CA10561544

Gene: EMD

Linked Data

• dbSNP Id: rs782440606
• ExAC: X:153608317 G / C
• gnomAD v2: X-153608317-G-C
• gnomAD v4: X-154379957-G-C
• MyVariant Identifiers: chrX:g.153608317G>C (hg19) ; chrX:g.154379957G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379957G>C , CM000685.2:g.154379957G>C	GRCh38
NC_000023.10:g.153608317G>C , CM000685.1:g.153608317G>C	GRCh37
NC_000023.9:g.153261511G>C	NCBI36
NG_008677.1:g.10522G>C , LRG_745:g.10522G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.203G>C	ENSP00000507245.1:p.Arg68Thr
ENST00000682478.1:n.179G>C
ENST00000683576.1:n.179G>C
ENST00000683627.1:c.203G>C	ENSP00000507533.1:p.Arg68Thr
ENST00000684082.1:c.203G>C	ENSP00000508266.1:p.Arg68Thr
ENST00000684633.1:n.175G>C
ENST00000684678.1:c.199G>C	ENSP00000507059.1:n.199G>C
ENST00000369842.9:c.203G>C MANE Select	ENSP00000358857.4:p.Arg68Thr
ENST00000369835.3:c.98G>C	ENSP00000358850.3:p.Arg33Thr
ENST00000369842.8:c.203G>C	ENSP00000358857.4:p.Arg68Thr
ENST00000428228.5:c.*108G>C	ENSP00000401081.1:n.*108G>C
ENST00000468294.5:n.163G>C
ENST00000485261.1:n.179G>C
ENST00000486738.5:n.347G>C
ENST00000492448.1:n.186G>C
ENST00000494443.5:n.260G>C
NM_000117.2:c.203G>C , LRG_745t1:c.203G>C	NP_000108.1:p.Arg68Thr
XM_024452349.1:c.-6G>C	XP_024308117.1:n.-6G>C
NM_000117.3:c.203G>C MANE Select	NP_000108.1:p.Arg68Thr