Canonical Allele Identifier: CA415257468

Gene: EMD

Linked Data

• ClinVar Variation Id: 864177
• ClinVar RCV Id: RCV001071300
• dbSNP Id: rs2067875291
• MyVariant Identifiers: chrX:g.153608103C>T (hg19) ; chrX:g.154379743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379743C>T , CM000685.2:g.154379743C>T	GRCh38
NC_000023.10:g.153608103C>T , CM000685.1:g.153608103C>T	GRCh37
NC_000023.9:g.153261297C>T	NCBI36
NG_008677.1:g.10308C>T , LRG_745:g.10308C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.136C>T	ENSP00000507245.1:p.Arg46Trp
ENST00000682478.1:n.112C>T
ENST00000683576.1:n.112C>T
ENST00000683627.1:c.136C>T	ENSP00000507533.1:p.Arg46Trp
ENST00000684082.1:c.136C>T	ENSP00000508266.1:p.Arg46Trp
ENST00000684633.1:n.108C>T
ENST00000684678.1:c.132C>T	ENSP00000507059.1:p.Gly44=
ENST00000369842.9:c.136C>T MANE Select	ENSP00000358857.4:p.Arg46Trp
ENST00000369835.3:c.82+177C>T	ENSP00000358850.3:n.82+177C>T
ENST00000369842.8:c.136C>T	ENSP00000358857.4:p.Arg46Trp
ENST00000428228.5:c.*41C>T	ENSP00000401081.1:n.*41C>T
ENST00000468294.5:n.96C>T
ENST00000485261.1:n.163+177C>T
ENST00000486738.5:n.280C>T
ENST00000492448.1:n.119C>T
ENST00000494443.5:n.193C>T
NM_000117.2:c.136C>T , LRG_745t1:c.136C>T	NP_000108.1:p.Arg46Trp
XM_024452349.1:c.-73C>T	XP_024308117.1:n.-73C>T
NM_000117.3:c.136C>T MANE Select	NP_000108.1:p.Arg46Trp