Canonical Allele Identifier: CA415258691

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609316G>C (hg19) ; chrX:g.154380956G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380956G>C , CM000685.2:g.154380956G>C	GRCh38
NC_000023.10:g.153609316G>C , CM000685.1:g.153609316G>C	GRCh37
NC_000023.9:g.153262510G>C	NCBI36
NG_008677.1:g.11521G>C , LRG_745:g.11521G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.524G>C	ENSP00000507245.1:p.Ser175Thr
ENST00000682478.1:n.714G>C
ENST00000683576.1:n.714G>C
ENST00000683627.1:c.524G>C	ENSP00000507533.1:p.Ser175Thr
ENST00000684082.1:c.481G>C	ENSP00000508266.1:n.481G>C
ENST00000684633.1:n.496G>C
ENST00000684678.1:c.520G>C	ENSP00000507059.1:n.520G>C
ENST00000369842.9:c.524G>C MANE Select	ENSP00000358857.4:p.Ser175Thr
ENST00000369835.3:c.419G>C	ENSP00000358850.3:p.Ser140Thr
ENST00000369842.8:c.524G>C	ENSP00000358857.4:p.Ser175Thr
ENST00000428228.5:c.*429G>C	ENSP00000401081.1:n.*429G>C
ENST00000471965.1:n.313G>C
ENST00000486738.5:n.961G>C
ENST00000492448.1:n.507G>C
NM_000117.2:c.524G>C , LRG_745t1:c.524G>C	NP_000108.1:p.Ser175Thr
XM_024452349.1:c.530G>C	XP_024308117.1:p.Ser177Thr
NM_000117.3:c.524G>C MANE Select	NP_000108.1:p.Ser175Thr