Canonical Allele Identifier: CA415258406

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609244A>C (hg19) ; chrX:g.154380884A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380884A>C , CM000685.2:g.154380884A>C	GRCh38
NC_000023.10:g.153609244A>C , CM000685.1:g.153609244A>C	GRCh37
NC_000023.9:g.153262438A>C	NCBI36
NG_008677.1:g.11449A>C , LRG_745:g.11449A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.452A>C	ENSP00000507245.1:p.Glu151Ala
ENST00000682478.1:n.642A>C
ENST00000683576.1:n.642A>C
ENST00000683627.1:c.452A>C	ENSP00000507533.1:p.Glu151Ala
ENST00000684082.1:c.409A>C	ENSP00000508266.1:n.409A>C
ENST00000684633.1:n.424A>C
ENST00000684678.1:c.448A>C	ENSP00000507059.1:n.448A>C
ENST00000369842.9:c.452A>C MANE Select	ENSP00000358857.4:p.Glu151Ala
ENST00000369835.3:c.347A>C	ENSP00000358850.3:p.Glu116Ala
ENST00000369842.8:c.452A>C	ENSP00000358857.4:p.Glu151Ala
ENST00000428228.5:c.*357A>C	ENSP00000401081.1:n.*357A>C
ENST00000468294.5:n.491A>C
ENST00000471965.1:n.241A>C
ENST00000485261.1:n.721A>C
ENST00000486738.5:n.889A>C
ENST00000492448.1:n.435A>C
NM_000117.2:c.452A>C , LRG_745t1:c.452A>C	NP_000108.1:p.Glu151Ala
XM_024452349.1:c.458A>C	XP_024308117.1:p.Glu153Ala
NM_000117.3:c.452A>C MANE Select	NP_000108.1:p.Glu151Ala