Canonical Allele Identifier: CA131133

Gene: EMD

Linked Data

• ClinVar Variation Id: 42277
• ClinVar RCV Id: RCV000035110 ; RCV001703449 ; RCV001852704 ; RCV003492339
• dbSNP Id: rs397515752
• gnomAD v4: X-154381003-A-G
• MyVariant Identifiers: chrX:g.153609363A>G (hg19) ; chrX:g.154381003A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381003A>G , CM000685.2:g.154381003A>G	GRCh38
NC_000023.10:g.153609363A>G , CM000685.1:g.153609363A>G	GRCh37
NC_000023.9:g.153262557A>G	NCBI36
NG_008677.1:g.11568A>G , LRG_745:g.11568A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.571A>G	ENSP00000507245.1:p.Met191Val
ENST00000682478.1:n.761A>G
ENST00000683576.1:n.761A>G
ENST00000683627.1:c.571A>G	ENSP00000507533.1:p.Met191Val
ENST00000684082.1:c.528A>G	ENSP00000508266.1:n.528A>G
ENST00000684633.1:n.543A>G
ENST00000684678.1:c.567A>G	ENSP00000507059.1:n.567A>G
ENST00000369842.9:c.571A>G MANE Select	ENSP00000358857.4:p.Met191Val
ENST00000369835.3:c.466A>G	ENSP00000358850.3:p.Met156Val
ENST00000369842.8:c.571A>G	ENSP00000358857.4:p.Met191Val
ENST00000428228.5:c.*476A>G	ENSP00000401081.1:n.*476A>G
ENST00000471965.1:n.360A>G
ENST00000486738.5:n.1008A>G
ENST00000492448.1:n.554A>G
NM_000117.2:c.571A>G , LRG_745t1:c.571A>G	NP_000108.1:p.Met191Val
XM_024452349.1:c.577A>G	XP_024308117.1:p.Met193Val
NM_000117.3:c.571A>G MANE Select	NP_000108.1:p.Met191Val