Canonical Allele Identifier: CA519277791

Gene: EMD

Linked Data

• ClinVar Variation Id: 1159435
• ClinVar RCV Id: RCV001503155
• dbSNP Id: rs1352660201
• gnomAD v2: X-153607883-C-A
• gnomAD v4: X-154379523-C-A
• MyVariant Identifiers: chrX:g.153607883C>A (hg19) ; chrX:g.154379523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379523C>A , CM000685.2:g.154379523C>A	GRCh38
NC_000023.10:g.153607883C>A , CM000685.1:g.153607883C>A	GRCh37
NC_000023.9:g.153261077C>A	NCBI36
NG_008677.1:g.10088C>A , LRG_745:g.10088C>A
NG_011506.1:g.124G>T
NG_011506.2:g.116G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.39C>A	ENSP00000507245.1:p.Thr13=
ENST00000682478.1:n.15C>A
ENST00000683576.1:n.15C>A
ENST00000683627.1:c.39C>A	ENSP00000507533.1:p.Thr13=
ENST00000684082.1:c.39C>A	ENSP00000508266.1:p.Thr13=
ENST00000684633.1:n.15C>A
ENST00000684678.1:c.39C>A	ENSP00000507059.1:p.Thr13=
ENST00000369842.9:c.39C>A MANE Select	ENSP00000358857.4:p.Thr13=
ENST00000369835.3:c.39C>A	ENSP00000358850.3:p.Thr13=
ENST00000369842.8:c.39C>A	ENSP00000358857.4:p.Thr13=
ENST00000428228.5:c.39C>A	ENSP00000401081.1:p.Thr13=
ENST00000485261.1:n.120C>A
ENST00000486738.5:n.183C>A
ENST00000494443.5:n.96C>A
NM_000117.2:c.39C>A , LRG_745t1:c.39C>A	NP_000108.1:p.Thr13=
XM_024452349.1:c.-170C>A	XP_024308117.1:n.-170C>A
NM_000117.3:c.39C>A MANE Select	NP_000108.1:p.Thr13=