Canonical Allele Identifier: CA519709705

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380761T>C , CM000685.2:g.154380761T>C	GRCh38
NC_000023.10:g.153609121T>C , CM000685.1:g.153609121T>C	GRCh37
NC_000023.9:g.153262315T>C	NCBI36
NG_008677.1:g.11326T>C , LRG_745:g.11326T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.408T>C MANE Select	NP_000108.1:p.Asp136=
ENST00000369842.9:c.408T>C MANE Select	ENSP00000358857.4:p.Asp136=
NM_000117.2:c.408T>C , LRG_745t1:c.408T>C	NP_000108.1:p.Asp136=
ENST00000369835.3:c.303T>C	ENSP00000358850.3:p.Asp101=
ENST00000369842.8:c.408T>C	ENSP00000358857.4:p.Asp136=
ENST00000428228.5:c.*313T>C	ENSP00000401081.1:n.*313T>C
ENST00000468294.5:n.368T>C
ENST00000471965.1:n.197T>C
ENST00000485261.1:n.598T>C
ENST00000486738.5:n.766T>C
ENST00000492448.1:n.391T>C
ENST00000682114.1:c.408T>C	ENSP00000507245.1:p.Asp136=
ENST00000682478.1:n.598T>C
ENST00000683576.1:n.598T>C
ENST00000683627.1:c.408T>C	ENSP00000507533.1:p.Asp136=
ENST00000684082.1:c.365T>C	ENSP00000508266.1:n.365T>C
ENST00000684633.1:n.380T>C
ENST00000684678.1:c.404T>C	ENSP00000507059.1:n.404T>C
XM_024452349.1:c.414T>C	XP_024308117.1:p.Asp138=