Canonical Allele Identifier: CA415257182

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153607924T>A (hg19) ; chrX:g.154379564T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379564T>A , CM000685.2:g.154379564T>A	GRCh38
NC_000023.10:g.153607924T>A , CM000685.1:g.153607924T>A	GRCh37
NC_000023.9:g.153261118T>A	NCBI36
NG_008677.1:g.10129T>A , LRG_745:g.10129T>A
NG_011506.1:g.83A>T
NG_011506.2:g.75A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.80T>A	ENSP00000507245.1:p.Val27Glu
ENST00000682478.1:n.56T>A
ENST00000683576.1:n.56T>A
ENST00000683627.1:c.80T>A	ENSP00000507533.1:p.Val27Glu
ENST00000684082.1:c.80T>A	ENSP00000508266.1:p.Val27Glu
ENST00000684633.1:n.54+2T>A
ENST00000684678.1:c.78+2T>A	ENSP00000507059.1:n.78+2T>A
ENST00000369842.9:c.80T>A MANE Select	ENSP00000358857.4:p.Val27Glu
ENST00000369835.3:c.80T>A	ENSP00000358850.3:p.Val27Glu
ENST00000369842.8:c.80T>A	ENSP00000358857.4:p.Val27Glu
ENST00000428228.5:c.53+27T>A	ENSP00000401081.1:n.53+27T>A
ENST00000468294.5:n.40T>A
ENST00000485261.1:n.161T>A
ENST00000486738.5:n.224T>A
ENST00000494443.5:n.137T>A
NM_000117.2:c.80T>A , LRG_745t1:c.80T>A	NP_000108.1:p.Val27Glu
XM_024452349.1:c.-129T>A	XP_024308117.1:n.-129T>A
NM_000117.3:c.80T>A MANE Select	NP_000108.1:p.Val27Glu