Canonical Allele Identifier: CA415259119

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609449G>C (hg19) ; chrX:g.154381089G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381089G>C , CM000685.2:g.154381089G>C	GRCh38
NC_000023.10:g.153609449G>C , CM000685.1:g.153609449G>C	GRCh37
NC_000023.9:g.153262643G>C	NCBI36
NG_008677.1:g.11654G>C , LRG_745:g.11654G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+85G>C	ENSP00000507245.1:n.572+85G>C
ENST00000682478.1:n.762+85G>C
ENST00000683576.1:n.847G>C
ENST00000683627.1:c.657G>C	ENSP00000507533.1:p.Gln219His
ENST00000684082.1:c.614G>C	ENSP00000508266.1:n.614G>C
ENST00000684633.1:n.629G>C
ENST00000684678.1:c.568+85G>C	ENSP00000507059.1:n.568+85G>C
ENST00000369842.9:c.657G>C MANE Select	ENSP00000358857.4:p.Gln219His
ENST00000369835.3:c.552G>C	ENSP00000358850.3:p.Gln184His
ENST00000369842.8:c.657G>C	ENSP00000358857.4:p.Gln219His
ENST00000428228.5:c.*562G>C	ENSP00000401081.1:n.*562G>C
ENST00000471965.1:n.446G>C
ENST00000486738.5:n.1094G>C
ENST00000492448.1:n.640G>C
NM_000117.2:c.657G>C , LRG_745t1:c.657G>C	NP_000108.1:p.Gln219His
XM_024452349.1:c.663G>C	XP_024308117.1:p.Gln221His
NM_000117.3:c.657G>C MANE Select	NP_000108.1:p.Gln219His