Canonical Allele Identifier: CA873318269

Gene: EMD

Linked Data

• dbSNP Id: rs1411652008
• gnomAD v3: X-154380152-C-T
• gnomAD v4: X-154380152-C-T
• MyVariant Identifiers: chrX:g.154380152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380152C>T , CM000685.2:g.154380152C>T	GRCh38
NC_000023.10:g.153608512C>T , CM000685.1:g.153608512C>T	GRCh37
NC_000023.9:g.153261706C>T	NCBI36
NG_008677.1:g.10717C>T , LRG_745:g.10717C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.266-82C>T	ENSP00000507245.1:n.266-82C>T
ENST00000682478.1:n.374C>T
ENST00000683576.1:n.374C>T
ENST00000683627.1:c.266-82C>T	ENSP00000507533.1:n.266-82C>T
ENST00000684082.1:c.266-125C>T	ENSP00000508266.1:n.266-125C>T
ENST00000684633.1:n.238-82C>T
ENST00000684678.1:c.262-82C>T	ENSP00000507059.1:n.262-82C>T
ENST00000369842.9:c.266-82C>T MANE Select	ENSP00000358857.4:n.266-82C>T
ENST00000369835.3:c.161-82C>T	ENSP00000358850.3:n.161-82C>T
ENST00000369842.8:c.266-82C>T	ENSP00000358857.4:n.266-82C>T
ENST00000428228.5:c.*171-82C>T	ENSP00000401081.1:n.*171-82C>T
ENST00000468294.5:n.226-82C>T
ENST00000485261.1:n.374C>T
ENST00000486738.5:n.542C>T
ENST00000492448.1:n.249-82C>T
ENST00000494443.5:n.455C>T
NM_000117.2:c.266-82C>T , LRG_745t1:c.266-82C>T	NP_000108.1:n.266-82C>T
XM_024452349.1:c.190C>T	XP_024308117.1:p.Arg64Ter
NM_000117.3:c.266-82C>T MANE Select	NP_000108.1:n.266-82C>T