Canonical Allele Identifier: CA415258402

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609243G>C (hg19) ; chrX:g.154380883G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380883G>C , CM000685.2:g.154380883G>C	GRCh38
NC_000023.10:g.153609243G>C , CM000685.1:g.153609243G>C	GRCh37
NC_000023.9:g.153262437G>C	NCBI36
NG_008677.1:g.11448G>C , LRG_745:g.11448G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.451G>C	ENSP00000507245.1:p.Glu151Gln
ENST00000682478.1:n.641G>C
ENST00000683576.1:n.641G>C
ENST00000683627.1:c.451G>C	ENSP00000507533.1:p.Glu151Gln
ENST00000684082.1:c.408G>C	ENSP00000508266.1:n.408G>C
ENST00000684633.1:n.423G>C
ENST00000684678.1:c.447G>C	ENSP00000507059.1:n.447G>C
ENST00000369842.9:c.451G>C MANE Select	ENSP00000358857.4:p.Glu151Gln
ENST00000369835.3:c.346G>C	ENSP00000358850.3:p.Glu116Gln
ENST00000369842.8:c.451G>C	ENSP00000358857.4:p.Glu151Gln
ENST00000428228.5:c.*356G>C	ENSP00000401081.1:n.*356G>C
ENST00000468294.5:n.490G>C
ENST00000471965.1:n.240G>C
ENST00000485261.1:n.720G>C
ENST00000486738.5:n.888G>C
ENST00000492448.1:n.434G>C
NM_000117.2:c.451G>C , LRG_745t1:c.451G>C	NP_000108.1:p.Glu151Gln
XM_024452349.1:c.457G>C	XP_024308117.1:p.Glu153Gln
NM_000117.3:c.451G>C MANE Select	NP_000108.1:p.Glu151Gln