Canonical Allele Identifier: CA415258301

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609149G>T (hg19) ; chrX:g.154380789G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380789G>T , CM000685.2:g.154380789G>T	GRCh38
NC_000023.10:g.153609149G>T , CM000685.1:g.153609149G>T	GRCh37
NC_000023.9:g.153262343G>T	NCBI36
NG_008677.1:g.11354G>T , LRG_745:g.11354G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.436G>T	ENSP00000507245.1:p.Glu146Ter
ENST00000682478.1:n.626G>T
ENST00000683576.1:n.626G>T
ENST00000683627.1:c.436G>T	ENSP00000507533.1:p.Glu146Ter
ENST00000684082.1:c.393G>T	ENSP00000508266.1:n.393G>T
ENST00000684633.1:n.408G>T
ENST00000684678.1:c.432G>T	ENSP00000507059.1:n.432G>T
ENST00000369842.9:c.436G>T MANE Select	ENSP00000358857.4:p.Glu146Ter
ENST00000369835.3:c.331G>T	ENSP00000358850.3:p.Glu111Ter
ENST00000369842.8:c.436G>T	ENSP00000358857.4:p.Glu146Ter
ENST00000428228.5:c.*341G>T	ENSP00000401081.1:n.*341G>T
ENST00000468294.5:n.396G>T
ENST00000471965.1:n.225G>T
ENST00000485261.1:n.626G>T
ENST00000486738.5:n.794G>T
ENST00000492448.1:n.419G>T
NM_000117.2:c.436G>T , LRG_745t1:c.436G>T	NP_000108.1:p.Glu146Ter
XM_024452349.1:c.442G>T	XP_024308117.1:p.Glu148Ter
NM_000117.3:c.436G>T MANE Select	NP_000108.1:p.Glu146Ter