Canonical Allele Identifier: CA415257832

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608614G>C (hg19) ; chrX:g.154380254G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380254G>C , CM000685.2:g.154380254G>C	GRCh38
NC_000023.10:g.153608614G>C , CM000685.1:g.153608614G>C	GRCh37
NC_000023.9:g.153261808G>C	NCBI36
NG_008677.1:g.10819G>C , LRG_745:g.10819G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.286G>C	ENSP00000507245.1:p.Glu96Gln
ENST00000682478.1:n.476G>C
ENST00000683576.1:n.476G>C
ENST00000683627.1:c.286G>C	ENSP00000507533.1:p.Glu96Gln
ENST00000684082.1:c.266-23G>C	ENSP00000508266.1:n.266-23G>C
ENST00000684633.1:n.258G>C
ENST00000684678.1:c.282G>C	ENSP00000507059.1:n.282G>C
ENST00000369842.9:c.286G>C MANE Select	ENSP00000358857.4:p.Glu96Gln
ENST00000369835.3:c.181G>C	ENSP00000358850.3:p.Glu61Gln
ENST00000369842.8:c.286G>C	ENSP00000358857.4:p.Glu96Gln
ENST00000428228.5:c.*191G>C	ENSP00000401081.1:n.*191G>C
ENST00000468294.5:n.246G>C
ENST00000485261.1:n.476G>C
ENST00000486738.5:n.644G>C
ENST00000492448.1:n.269G>C
ENST00000494443.5:n.557G>C
NM_000117.2:c.286G>C , LRG_745t1:c.286G>C	NP_000108.1:p.Glu96Gln
XM_024452349.1:c.292G>C	XP_024308117.1:p.Glu98Gln
NM_000117.3:c.286G>C MANE Select	NP_000108.1:p.Glu96Gln