Canonical Allele Identifier: CA10561510

Gene: EMD

Linked Data

• ClinVar Variation Id: 2919746
• ClinVar RCV Id: RCV003639349
• dbSNP Id: rs201140396
• ExAC: X:153608037 C / T
• gnomAD v2: X-153608037-C-T
• gnomAD v3: X-154379677-C-T
• gnomAD v4: X-154379677-C-T
• MyVariant Identifiers: chrX:g.153608037C>T (hg19) ; chrX:g.154379677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379677C>T , CM000685.2:g.154379677C>T	GRCh38
NC_000023.10:g.153608037C>T , CM000685.1:g.153608037C>T	GRCh37
NC_000023.9:g.153261231C>T	NCBI36
NG_008677.1:g.10242C>T , LRG_745:g.10242C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.83-13C>T	ENSP00000507245.1:n.83-13C>T
ENST00000682478.1:n.59-13C>T
ENST00000683576.1:n.59-13C>T
ENST00000683627.1:c.83-13C>T	ENSP00000507533.1:n.83-13C>T
ENST00000684082.1:c.83-13C>T	ENSP00000508266.1:n.83-13C>T
ENST00000684633.1:n.55-13C>T
ENST00000684678.1:c.79-13C>T	ENSP00000507059.1:n.79-13C>T
ENST00000369842.9:c.83-13C>T MANE Select	ENSP00000358857.4:n.83-13C>T
ENST00000369835.3:c.82+111C>T	ENSP00000358850.3:n.82+111C>T
ENST00000369842.8:c.83-13C>T	ENSP00000358857.4:n.83-13C>T
ENST00000428228.5:c.54-13C>T	ENSP00000401081.1:n.54-13C>T
ENST00000468294.5:n.43-13C>T
ENST00000485261.1:n.163+111C>T
ENST00000486738.5:n.227-13C>T
ENST00000492448.1:n.53C>T
ENST00000494443.5:n.140-13C>T
NM_000117.2:c.83-13C>T , LRG_745t1:c.83-13C>T	NP_000108.1:n.83-13C>T
XM_024452349.1:c.-126-13C>T	XP_024308117.1:n.-126-13C>T
NM_000117.3:c.83-13C>T MANE Select	NP_000108.1:n.83-13C>T