Canonical Allele Identifier: CA415257473

Gene: EMD

Linked Data

• ClinVar Variation Id: 1985808
• ClinVar RCV Id: RCV002781024
• gnomAD v4: X-154379746-C-T
• MyVariant Identifiers: chrX:g.153608106C>T (hg19) ; chrX:g.154379746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379746C>T , CM000685.2:g.154379746C>T	GRCh38
NC_000023.10:g.153608106C>T , CM000685.1:g.153608106C>T	GRCh37
NC_000023.9:g.153261300C>T	NCBI36
NG_008677.1:g.10311C>T , LRG_745:g.10311C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.139C>T	ENSP00000507245.1:p.Arg47Trp
ENST00000682478.1:n.115C>T
ENST00000683576.1:n.115C>T
ENST00000683627.1:c.139C>T	ENSP00000507533.1:p.Arg47Trp
ENST00000684082.1:c.139C>T	ENSP00000508266.1:p.Arg47Trp
ENST00000684633.1:n.111C>T
ENST00000684678.1:c.135C>T	ENSP00000507059.1:p.Gly45=
ENST00000369842.9:c.139C>T MANE Select	ENSP00000358857.4:p.Arg47Trp
ENST00000369835.3:c.82+180C>T	ENSP00000358850.3:n.82+180C>T
ENST00000369842.8:c.139C>T	ENSP00000358857.4:p.Arg47Trp
ENST00000428228.5:c.*44C>T	ENSP00000401081.1:n.*44C>T
ENST00000468294.5:n.99C>T
ENST00000485261.1:n.163+180C>T
ENST00000486738.5:n.283C>T
ENST00000492448.1:n.122C>T
ENST00000494443.5:n.196C>T
NM_000117.2:c.139C>T , LRG_745t1:c.139C>T	NP_000108.1:p.Arg47Trp
XM_024452349.1:c.-70C>T	XP_024308117.1:n.-70C>T
NM_000117.3:c.139C>T MANE Select	NP_000108.1:p.Arg47Trp