Canonical Allele Identifier: CA415258396

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609242G>C (hg19) ; chrX:g.154380882G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380882G>C , CM000685.2:g.154380882G>C	GRCh38
NC_000023.10:g.153609242G>C , CM000685.1:g.153609242G>C	GRCh37
NC_000023.9:g.153262436G>C	NCBI36
NG_008677.1:g.11447G>C , LRG_745:g.11447G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.450G>C	ENSP00000507245.1:p.Arg150Ser
ENST00000682478.1:n.640G>C
ENST00000683576.1:n.640G>C
ENST00000683627.1:c.450G>C	ENSP00000507533.1:p.Arg150Ser
ENST00000684082.1:c.407G>C	ENSP00000508266.1:n.407G>C
ENST00000684633.1:n.422G>C
ENST00000684678.1:c.446G>C	ENSP00000507059.1:n.446G>C
ENST00000369842.9:c.450G>C MANE Select	ENSP00000358857.4:p.Arg150Ser
ENST00000369835.3:c.345G>C	ENSP00000358850.3:p.Arg115Ser
ENST00000369842.8:c.450G>C	ENSP00000358857.4:p.Arg150Ser
ENST00000428228.5:c.*355G>C	ENSP00000401081.1:n.*355G>C
ENST00000468294.5:n.489G>C
ENST00000471965.1:n.239G>C
ENST00000485261.1:n.719G>C
ENST00000486738.5:n.887G>C
ENST00000492448.1:n.433G>C
NM_000117.2:c.450G>C , LRG_745t1:c.450G>C	NP_000108.1:p.Arg150Ser
XM_024452349.1:c.456G>C	XP_024308117.1:p.Arg152Ser
NM_000117.3:c.450G>C MANE Select	NP_000108.1:p.Arg150Ser