Canonical Allele Identifier: CA645290595

Gene: EMD

Linked Data

• ClinVar Variation Id: 2784614
• ClinVar RCV Id: RCV003639382
• dbSNP Id: rs1557182322
• gnomAD v2: X-153608167-C-T
• MyVariant Identifiers: chrX:g.153608167C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379807C>T , CM000685.2:g.154379807C>T	GRCh38
NC_000023.10:g.153608167C>T , CM000685.1:g.153608167C>T	GRCh37
NC_000023.9:g.153261361C>T	NCBI36
NG_008677.1:g.10372C>T , LRG_745:g.10372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.187+13C>T	ENSP00000507245.1:n.187+13C>T
ENST00000682478.1:n.163+13C>T
ENST00000683576.1:n.163+13C>T
ENST00000683627.1:c.187+13C>T	ENSP00000507533.1:n.187+13C>T
ENST00000684082.1:c.187+13C>T	ENSP00000508266.1:n.187+13C>T
ENST00000684633.1:n.159+13C>T
ENST00000684678.1:c.183+13C>T	ENSP00000507059.1:n.183+13C>T
ENST00000369842.9:c.187+13C>T MANE Select	ENSP00000358857.4:n.187+13C>T
ENST00000369835.3:c.83-135C>T	ENSP00000358850.3:n.83-135C>T
ENST00000369842.8:c.187+13C>T	ENSP00000358857.4:n.187+13C>T
ENST00000428228.5:c.*92+13C>T	ENSP00000401081.1:n.*92+13C>T
ENST00000468294.5:n.147+13C>T
ENST00000485261.1:n.164-135C>T
ENST00000486738.5:n.331+13C>T
ENST00000492448.1:n.170+13C>T
ENST00000494443.5:n.244+13C>T
NM_000117.2:c.187+13C>T , LRG_745t1:c.187+13C>T	NP_000108.1:n.187+13C>T
XM_024452349.1:c.-22+13C>T	XP_024308117.1:n.-22+13C>T
NM_000117.3:c.187+13C>T MANE Select	NP_000108.1:n.187+13C>T