Canonical Allele Identifier: CA415257474

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608107G>T (hg19) ; chrX:g.154379747G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379747G>T , CM000685.2:g.154379747G>T	GRCh38
NC_000023.10:g.153608107G>T , CM000685.1:g.153608107G>T	GRCh37
NC_000023.9:g.153261301G>T	NCBI36
NG_008677.1:g.10312G>T , LRG_745:g.10312G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.140G>T	ENSP00000507245.1:p.Arg47Leu
ENST00000682478.1:n.116G>T
ENST00000683576.1:n.116G>T
ENST00000683627.1:c.140G>T	ENSP00000507533.1:p.Arg47Leu
ENST00000684082.1:c.140G>T	ENSP00000508266.1:p.Arg47Leu
ENST00000684633.1:n.112G>T
ENST00000684678.1:c.136G>T	ENSP00000507059.1:p.Gly46Cys
ENST00000369842.9:c.140G>T MANE Select	ENSP00000358857.4:p.Arg47Leu
ENST00000369835.3:c.82+181G>T	ENSP00000358850.3:n.82+181G>T
ENST00000369842.8:c.140G>T	ENSP00000358857.4:p.Arg47Leu
ENST00000428228.5:c.*45G>T	ENSP00000401081.1:n.*45G>T
ENST00000468294.5:n.100G>T
ENST00000485261.1:n.163+181G>T
ENST00000486738.5:n.284G>T
ENST00000492448.1:n.123G>T
ENST00000494443.5:n.197G>T
NM_000117.2:c.140G>T , LRG_745t1:c.140G>T	NP_000108.1:p.Arg47Leu
XM_024452349.1:c.-69G>T	XP_024308117.1:n.-69G>T
NM_000117.3:c.140G>T MANE Select	NP_000108.1:p.Arg47Leu