Canonical Allele Identifier: CA645171878

Gene: EMD

Linked Data

• dbSNP Id: rs1557182532
• gnomAD v2: X-153609087-C-A
• gnomAD v4: X-154380727-C-A
• MyVariant Identifiers: chrX:g.153609087C>A (hg19) ; chrX:g.154380727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380727C>A , CM000685.2:g.154380727C>A	GRCh38
NC_000023.10:g.153609087C>A , CM000685.1:g.153609087C>A	GRCh37
NC_000023.9:g.153262281C>A	NCBI36
NG_008677.1:g.11292C>A , LRG_745:g.11292C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-26C>A	ENSP00000507245.1:n.400-26C>A
ENST00000682478.1:n.590-26C>A
ENST00000683576.1:n.590-26C>A
ENST00000683627.1:c.400-26C>A	ENSP00000507533.1:n.400-26C>A
ENST00000684082.1:c.357-26C>A	ENSP00000508266.1:n.357-26C>A
ENST00000684633.1:n.372-26C>A
ENST00000684678.1:c.396-26C>A	ENSP00000507059.1:n.396-26C>A
ENST00000369842.9:c.400-26C>A MANE Select	ENSP00000358857.4:n.400-26C>A
ENST00000369835.3:c.295-26C>A	ENSP00000358850.3:n.295-26C>A
ENST00000369842.8:c.400-26C>A	ENSP00000358857.4:n.400-26C>A
ENST00000428228.5:c.*305-26C>A	ENSP00000401081.1:n.*305-26C>A
ENST00000468294.5:n.360-26C>A
ENST00000471965.1:n.163C>A
ENST00000485261.1:n.590-26C>A
ENST00000486738.5:n.758-26C>A
ENST00000492448.1:n.383-26C>A
NM_000117.2:c.400-26C>A , LRG_745t1:c.400-26C>A	NP_000108.1:n.400-26C>A
XM_024452349.1:c.406-26C>A	XP_024308117.1:n.406-26C>A
NM_000117.3:c.400-26C>A MANE Select	NP_000108.1:n.400-26C>A