Canonical Allele Identifier: CA415257467

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608103C>G (hg19) ; chrX:g.154379743C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.136C>G	ENSP00000507245.1:p.Arg46Gly
ENST00000682478.1:n.112C>G
ENST00000683576.1:n.112C>G
ENST00000683627.1:c.136C>G	ENSP00000507533.1:p.Arg46Gly
ENST00000684082.1:c.136C>G	ENSP00000508266.1:p.Arg46Gly
ENST00000684633.1:n.108C>G
ENST00000684678.1:c.132C>G	ENSP00000507059.1:p.Gly44=
ENST00000369842.9:c.136C>G MANE Select	ENSP00000358857.4:p.Arg46Gly
ENST00000369835.3:c.82+177C>G	ENSP00000358850.3:n.82+177C>G
ENST00000369842.8:c.136C>G	ENSP00000358857.4:p.Arg46Gly
ENST00000428228.5:c.*41C>G	ENSP00000401081.1:n.*41C>G
ENST00000468294.5:n.96C>G
ENST00000485261.1:n.163+177C>G
ENST00000486738.5:n.280C>G
ENST00000492448.1:n.119C>G
ENST00000494443.5:n.193C>G
NM_000117.2:c.136C>G , LRG_745t1:c.136C>G	NP_000108.1:p.Arg46Gly
XM_024452349.1:c.-73C>G	XP_024308117.1:n.-73C>G
NM_000117.3:c.136C>G MANE Select	NP_000108.1:p.Arg46Gly