Canonical Allele Identifier: CA415257424

Gene: EMD

Linked Data

• COSMIC: COSM1733425
• MyVariant Identifiers: chrX:g.153608086A>T (hg19) ; chrX:g.154379726A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379726A>T , CM000685.2:g.154379726A>T	GRCh38
NC_000023.10:g.153608086A>T , CM000685.1:g.153608086A>T	GRCh37
NC_000023.9:g.153261280A>T	NCBI36
NG_008677.1:g.10291A>T , LRG_745:g.10291A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.119A>T	ENSP00000507245.1:p.Glu40Val
ENST00000682478.1:n.95A>T
ENST00000683576.1:n.95A>T
ENST00000683627.1:c.119A>T	ENSP00000507533.1:p.Glu40Val
ENST00000684082.1:c.119A>T	ENSP00000508266.1:p.Glu40Val
ENST00000684633.1:n.91A>T
ENST00000684678.1:c.115A>T	ENSP00000507059.1:p.Ser39Cys
ENST00000369842.9:c.119A>T MANE Select	ENSP00000358857.4:p.Glu40Val
ENST00000369835.3:c.82+160A>T	ENSP00000358850.3:n.82+160A>T
ENST00000369842.8:c.119A>T	ENSP00000358857.4:p.Glu40Val
ENST00000428228.5:c.*24A>T	ENSP00000401081.1:n.*24A>T
ENST00000468294.5:n.79A>T
ENST00000485261.1:n.163+160A>T
ENST00000486738.5:n.263A>T
ENST00000492448.1:n.102A>T
ENST00000494443.5:n.176A>T
NM_000117.2:c.119A>T , LRG_745t1:c.119A>T	NP_000108.1:p.Glu40Val
XM_024452349.1:c.-90A>T	XP_024308117.1:n.-90A>T
NM_000117.3:c.119A>T MANE Select	NP_000108.1:p.Glu40Val