Canonical Allele Identifier: CA415257652

Gene: EMD

Linked Data

• gnomAD v4: X-154379973-G-A
• MyVariant Identifiers: chrX:g.153608333G>A (hg19) ; chrX:g.154379973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379973G>A , CM000685.2:g.154379973G>A	GRCh38
NC_000023.10:g.153608333G>A , CM000685.1:g.153608333G>A	GRCh37
NC_000023.9:g.153261527G>A	NCBI36
NG_008677.1:g.10538G>A , LRG_745:g.10538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.219G>A	ENSP00000507245.1:p.Met73Ile
ENST00000682478.1:n.195G>A
ENST00000683576.1:n.195G>A
ENST00000683627.1:c.219G>A	ENSP00000507533.1:p.Met73Ile
ENST00000684082.1:c.219G>A	ENSP00000508266.1:p.Met73Ile
ENST00000684633.1:n.191G>A
ENST00000684678.1:c.215G>A	ENSP00000507059.1:n.215G>A
ENST00000369842.9:c.219G>A MANE Select	ENSP00000358857.4:p.Met73Ile
ENST00000369835.3:c.114G>A	ENSP00000358850.3:p.Met38Ile
ENST00000369842.8:c.219G>A	ENSP00000358857.4:p.Met73Ile
ENST00000428228.5:c.*124G>A	ENSP00000401081.1:n.*124G>A
ENST00000468294.5:n.179G>A
ENST00000485261.1:n.195G>A
ENST00000486738.5:n.363G>A
ENST00000492448.1:n.202G>A
ENST00000494443.5:n.276G>A
NM_000117.2:c.219G>A , LRG_745t1:c.219G>A	NP_000108.1:p.Met73Ile
XM_024452349.1:c.11G>A	XP_024308117.1:p.Cys4Tyr
NM_000117.3:c.219G>A MANE Select	NP_000108.1:p.Met73Ile