Canonical Allele Identifier: CA415259075

Gene: EMD

Linked Data

• gnomAD v4: X-154381073-G-A
• MyVariant Identifiers: chrX:g.153609433G>A (hg19) ; chrX:g.154381073G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381073G>A , CM000685.2:g.154381073G>A	GRCh38
NC_000023.10:g.153609433G>A , CM000685.1:g.153609433G>A	GRCh37
NC_000023.9:g.153262627G>A	NCBI36
NG_008677.1:g.11638G>A , LRG_745:g.11638G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.572+69G>A	ENSP00000507245.1:n.572+69G>A
ENST00000682478.1:n.762+69G>A
ENST00000683576.1:n.831G>A
ENST00000683627.1:c.641G>A	ENSP00000507533.1:p.Gly214Glu
ENST00000684082.1:c.598G>A	ENSP00000508266.1:n.598G>A
ENST00000684633.1:n.613G>A
ENST00000684678.1:c.568+69G>A	ENSP00000507059.1:n.568+69G>A
ENST00000369842.9:c.641G>A MANE Select	ENSP00000358857.4:p.Gly214Glu
ENST00000369835.3:c.536G>A	ENSP00000358850.3:p.Gly179Glu
ENST00000369842.8:c.641G>A	ENSP00000358857.4:p.Gly214Glu
ENST00000428228.5:c.*546G>A	ENSP00000401081.1:n.*546G>A
ENST00000471965.1:n.430G>A
ENST00000486738.5:n.1078G>A
ENST00000492448.1:n.624G>A
NM_000117.2:c.641G>A , LRG_745t1:c.641G>A	NP_000108.1:p.Gly214Glu
XM_024452349.1:c.647G>A	XP_024308117.1:p.Gly216Glu
NM_000117.3:c.641G>A MANE Select	NP_000108.1:p.Gly214Glu