Canonical Allele Identifier: CA2579738588

Gene: EMD

Linked Data

• ClinVar Variation Id: 2722904
• ClinVar RCV Id: RCV003522445
• gnomAD v4: X-154380036-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380036G>A , CM000685.2:g.154380036G>A	GRCh38
NC_000023.10:g.153608396G>A , CM000685.1:g.153608396G>A	GRCh37
NC_000023.9:g.153261590G>A	NCBI36
NG_008677.1:g.10601G>A , LRG_745:g.10601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+17G>A	ENSP00000507245.1:n.265+17G>A
ENST00000682478.1:n.258G>A
ENST00000683576.1:n.258G>A
ENST00000683627.1:c.265+17G>A	ENSP00000507533.1:n.265+17G>A
ENST00000684082.1:c.265+17G>A	ENSP00000508266.1:n.265+17G>A
ENST00000684633.1:n.237+17G>A
ENST00000684678.1:c.261+17G>A	ENSP00000507059.1:n.261+17G>A
ENST00000369842.9:c.265+17G>A MANE Select	ENSP00000358857.4:n.265+17G>A
ENST00000369835.3:c.160+17G>A	ENSP00000358850.3:n.160+17G>A
ENST00000369842.8:c.265+17G>A	ENSP00000358857.4:n.265+17G>A
ENST00000428228.5:c.*170+17G>A	ENSP00000401081.1:n.*170+17G>A
ENST00000468294.5:n.225+17G>A
ENST00000485261.1:n.258G>A
ENST00000486738.5:n.426G>A
ENST00000492448.1:n.248+17G>A
ENST00000494443.5:n.339G>A
NM_000117.2:c.265+17G>A , LRG_745t1:c.265+17G>A	NP_000108.1:n.265+17G>A
XM_024452349.1:c.74G>A	XP_024308117.1:p.Gly25Asp
NM_000117.3:c.265+17G>A MANE Select	NP_000108.1:n.265+17G>A