Canonical Allele Identifier: CA10561578

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380321G>A , CM000685.2:g.154380321G>A	GRCh38
NC_000023.10:g.153608681G>A , CM000685.1:g.153608681G>A	GRCh37
NC_000023.9:g.153261875G>A	NCBI36
NG_008677.1:g.10886G>A , LRG_745:g.10886G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.353G>A MANE Select	NP_000108.1:p.Arg118His
ENST00000369842.9:c.353G>A MANE Select	ENSP00000358857.4:p.Arg118His
NM_000117.2:c.353G>A , LRG_745t1:c.353G>A	NP_000108.1:p.Arg118His
ENST00000369835.3:c.248G>A	ENSP00000358850.3:p.Arg83His
ENST00000369842.8:c.353G>A	ENSP00000358857.4:p.Arg118His
ENST00000428228.5:c.*258G>A	ENSP00000401081.1:n.*258G>A
ENST00000468294.5:n.313G>A
ENST00000485261.1:n.543G>A
ENST00000486738.5:n.711G>A
ENST00000492448.1:n.336G>A
ENST00000494443.5:n.624G>A
ENST00000682114.1:c.353G>A	ENSP00000507245.1:p.Arg118His
ENST00000682478.1:n.543G>A
ENST00000683576.1:n.543G>A
ENST00000683627.1:c.353G>A	ENSP00000507533.1:p.Arg118His
ENST00000684082.1:c.310G>A	ENSP00000508266.1:p.Ala104Thr
ENST00000684633.1:n.325G>A
ENST00000684678.1:c.349G>A	ENSP00000507059.1:n.349G>A
XM_024452349.1:c.359G>A	XP_024308117.1:p.Arg120His