Canonical Allele Identifier: CA2695115162

Gene: EMD

Linked Data

• gnomAD v4: X-154380093-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380093C>T , CM000685.2:g.154380093C>T	GRCh38
NC_000023.10:g.153608453C>T , CM000685.1:g.153608453C>T	GRCh37
NC_000023.9:g.153261647C>T	NCBI36
NG_008677.1:g.10658C>T , LRG_745:g.10658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+74C>T	ENSP00000507245.1:n.265+74C>T
ENST00000682478.1:n.315C>T
ENST00000683576.1:n.315C>T
ENST00000683627.1:c.265+74C>T	ENSP00000507533.1:n.265+74C>T
ENST00000684082.1:c.265+74C>T	ENSP00000508266.1:n.265+74C>T
ENST00000684633.1:n.237+74C>T
ENST00000684678.1:c.261+74C>T	ENSP00000507059.1:n.261+74C>T
ENST00000369842.9:c.265+74C>T MANE Select	ENSP00000358857.4:n.265+74C>T
ENST00000369835.3:c.160+74C>T	ENSP00000358850.3:n.160+74C>T
ENST00000369842.8:c.265+74C>T	ENSP00000358857.4:n.265+74C>T
ENST00000428228.5:c.*170+74C>T	ENSP00000401081.1:n.*170+74C>T
ENST00000468294.5:n.225+74C>T
ENST00000485261.1:n.315C>T
ENST00000486738.5:n.483C>T
ENST00000492448.1:n.248+74C>T
ENST00000494443.5:n.396C>T
NM_000117.2:c.265+74C>T , LRG_745t1:c.265+74C>T	NP_000108.1:n.265+74C>T
XM_024452349.1:c.131C>T	XP_024308117.1:p.Pro44Leu
NM_000117.3:c.265+74C>T MANE Select	NP_000108.1:n.265+74C>T