Canonical Allele Identifier: CA337288811

Gene: EMD

Linked Data

• ClinVar Variation Id: 1097205
• ClinVar RCV Id: RCV001418679 ; RCV002322432
• dbSNP Id: rs145781828
• gnomAD v2: X-153607874-C-G
• gnomAD v3: X-154379514-C-G
• gnomAD v4: X-154379514-C-G
• MyVariant Identifiers: chrX:g.153607874C>G (hg19) ; chrX:g.154379514C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379514C>G , CM000685.2:g.154379514C>G	GRCh38
NC_000023.10:g.153607874C>G , CM000685.1:g.153607874C>G	GRCh37
NC_000023.9:g.153261068C>G	NCBI36
NG_008677.1:g.10079C>G , LRG_745:g.10079C>G
NG_011506.1:g.133G>C
NG_011506.2:g.125G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.30C>G	ENSP00000507245.1:p.Thr10=
ENST00000682478.1:n.6C>G
ENST00000683576.1:n.6C>G
ENST00000683627.1:c.30C>G	ENSP00000507533.1:p.Thr10=
ENST00000684082.1:c.30C>G	ENSP00000508266.1:p.Thr10=
ENST00000684633.1:n.6C>G
ENST00000684678.1:c.30C>G	ENSP00000507059.1:p.Thr10=
ENST00000369842.9:c.30C>G MANE Select	ENSP00000358857.4:p.Thr10=
ENST00000369835.3:c.30C>G	ENSP00000358850.3:p.Thr10=
ENST00000369842.8:c.30C>G	ENSP00000358857.4:p.Thr10=
ENST00000428228.5:c.30C>G	ENSP00000401081.1:p.Thr10=
ENST00000485261.1:n.111C>G
ENST00000486738.5:n.174C>G
ENST00000494443.5:n.87C>G
NM_000117.2:c.30C>G , LRG_745t1:c.30C>G	NP_000108.1:p.Thr10=
XM_024452349.1:c.-179C>G	XP_024308117.1:n.-179C>G
NM_000117.3:c.30C>G MANE Select	NP_000108.1:p.Thr10=