Canonical Allele Identifier: CA415259208

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609470G>C (hg19) ; chrX:g.154381110G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381110G>C , CM000685.2:g.154381110G>C	GRCh38
NC_000023.10:g.153609470G>C , CM000685.1:g.153609470G>C	GRCh37
NC_000023.9:g.153262664G>C	NCBI36
NG_008677.1:g.11675G>C , LRG_745:g.11675G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+106G>C	ENSP00000507245.1:n.572+106G>C
ENST00000682478.1:n.762+106G>C
ENST00000683576.1:n.868G>C
ENST00000683627.1:c.678G>C	ENSP00000507533.1:p.Trp226Cys
ENST00000684082.1:c.635G>C	ENSP00000508266.1:n.635G>C
ENST00000684633.1:n.650G>C
ENST00000684678.1:c.568+106G>C	ENSP00000507059.1:n.568+106G>C
ENST00000369842.9:c.678G>C MANE Select	ENSP00000358857.4:p.Trp226Cys
ENST00000369835.3:c.573G>C	ENSP00000358850.3:p.Trp191Cys
ENST00000369842.8:c.678G>C	ENSP00000358857.4:p.Trp226Cys
ENST00000428228.5:c.*583G>C	ENSP00000401081.1:n.*583G>C
ENST00000471965.1:n.467G>C
ENST00000486738.5:n.1115G>C
ENST00000492448.1:n.661G>C
NM_000117.2:c.678G>C , LRG_745t1:c.678G>C	NP_000108.1:p.Trp226Cys
XM_024452349.1:c.684G>C	XP_024308117.1:p.Trp228Cys
NM_000117.3:c.678G>C MANE Select	NP_000108.1:p.Trp226Cys