Canonical Allele Identifier: CA10561552

Gene: EMD

Linked Data

• ClinVar Variation Id: 1101663
• ClinVar RCV Id: RCV001424669
• dbSNP Id: rs782612830
• ExAC: X:153608366 C / T
• gnomAD v2: X-153608366-C-T
• gnomAD v3: X-154380006-C-T
• gnomAD v4: X-154380006-C-T
• MyVariant Identifiers: chrX:g.153608366C>T (hg19) ; chrX:g.154380006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380006C>T , CM000685.2:g.154380006C>T	GRCh38
NC_000023.10:g.153608366C>T , CM000685.1:g.153608366C>T	GRCh37
NC_000023.9:g.153261560C>T	NCBI36
NG_008677.1:g.10571C>T , LRG_745:g.10571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.252C>T	ENSP00000507245.1:p.Leu84=
ENST00000682478.1:n.228C>T
ENST00000683576.1:n.228C>T
ENST00000683627.1:c.252C>T	ENSP00000507533.1:p.Leu84=
ENST00000684082.1:c.252C>T	ENSP00000508266.1:p.Leu84=
ENST00000684633.1:n.224C>T
ENST00000684678.1:c.248C>T	ENSP00000507059.1:n.248C>T
ENST00000369842.9:c.252C>T MANE Select	ENSP00000358857.4:p.Leu84=
ENST00000369835.3:c.147C>T	ENSP00000358850.3:p.Leu49=
ENST00000369842.8:c.252C>T	ENSP00000358857.4:p.Leu84=
ENST00000428228.5:c.*157C>T	ENSP00000401081.1:n.*157C>T
ENST00000468294.5:n.212C>T
ENST00000485261.1:n.228C>T
ENST00000486738.5:n.396C>T
ENST00000492448.1:n.235C>T
ENST00000494443.5:n.309C>T
NM_000117.2:c.252C>T , LRG_745t1:c.252C>T	NP_000108.1:p.Leu84=
XM_024452349.1:c.44C>T	XP_024308117.1:p.Ser15Phe
NM_000117.3:c.252C>T MANE Select	NP_000108.1:p.Leu84=