Canonical Allele Identifier: CA10561659

Gene: EMD

Linked Data

• dbSNP Id: rs781893211
• ExAC: X:153609458 G / A
• gnomAD v2: X-153609458-G-A
• gnomAD v4: X-154381098-G-A
• MyVariant Identifiers: chrX:g.153609458G>A (hg19) ; chrX:g.154381098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381098G>A , CM000685.2:g.154381098G>A	GRCh38
NC_000023.10:g.153609458G>A , CM000685.1:g.153609458G>A	GRCh37
NC_000023.9:g.153262652G>A	NCBI36
NG_008677.1:g.11663G>A , LRG_745:g.11663G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.572+94G>A	ENSP00000507245.1:n.572+94G>A
ENST00000682478.1:n.762+94G>A
ENST00000683576.1:n.856G>A
ENST00000683627.1:c.666G>A	ENSP00000507533.1:p.Gln222=
ENST00000684082.1:c.623G>A	ENSP00000508266.1:n.623G>A
ENST00000684633.1:n.638G>A
ENST00000684678.1:c.568+94G>A	ENSP00000507059.1:n.568+94G>A
ENST00000369842.9:c.666G>A MANE Select	ENSP00000358857.4:p.Gln222=
ENST00000369835.3:c.561G>A	ENSP00000358850.3:p.Gln187=
ENST00000369842.8:c.666G>A	ENSP00000358857.4:p.Gln222=
ENST00000428228.5:c.*571G>A	ENSP00000401081.1:n.*571G>A
ENST00000471965.1:n.455G>A
ENST00000486738.5:n.1103G>A
ENST00000492448.1:n.649G>A
NM_000117.2:c.666G>A , LRG_745t1:c.666G>A	NP_000108.1:p.Gln222=
XM_024452349.1:c.672G>A	XP_024308117.1:p.Gln224=
NM_000117.3:c.666G>A MANE Select	NP_000108.1:p.Gln222=