Canonical Allele Identifier: CA10603810

Gene: EMD

Linked Data

• ClinVar Variation Id: 281087
• ClinVar RCV Id: RCV000518435 ; RCV001068392
• dbSNP Id: rs886044771
• gnomAD v4: X-154379487-G-A
• MyVariant Identifiers: chrX:g.153607847G>A (hg19) ; chrX:g.154379487G>A (hg38)
• PubMed: PMID:8595406 ; PMID:9472006 ; PMID:10399752 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379487G>A , CM000685.2:g.154379487G>A	GRCh38
NC_000023.10:g.153607847G>A , CM000685.1:g.153607847G>A	GRCh37
NC_000023.9:g.153261041G>A	NCBI36
NG_008677.1:g.10052G>A , LRG_745:g.10052G>A
NG_011506.1:g.160C>T
NG_011506.2:g.152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.3G>A	ENSP00000507245.1:p.Met1Ile
ENST00000683627.1:c.3G>A	ENSP00000507533.1:p.Met1Ile
ENST00000684082.1:c.3G>A	ENSP00000508266.1:p.Met1Ile
ENST00000684678.1:c.3G>A	ENSP00000507059.1:p.Met1Ile
ENST00000369842.9:c.3G>A MANE Select	ENSP00000358857.4:p.Met1Ile
ENST00000369835.3:c.3G>A	ENSP00000358850.3:p.Met1Ile
ENST00000369842.8:c.3G>A	ENSP00000358857.4:p.Met1Ile
ENST00000428228.5:c.3G>A	ENSP00000401081.1:p.Met1Ile
ENST00000485261.1:n.84G>A
ENST00000486738.5:n.147G>A
ENST00000494443.5:n.60G>A
NM_000117.2:c.3G>A , LRG_745t1:c.3G>A	NP_000108.1:p.Met1Ile
XM_024452349.1:c.-206G>A	XP_024308117.1:n.-206G>A
NM_000117.3:c.3G>A MANE Select	NP_000108.1:p.Met1Ile