Canonical Allele Identifier: CA415257721

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608362T>A (hg19) ; chrX:g.154380002T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380002T>A , CM000685.2:g.154380002T>A	GRCh38
NC_000023.10:g.153608362T>A , CM000685.1:g.153608362T>A	GRCh37
NC_000023.9:g.153261556T>A	NCBI36
NG_008677.1:g.10567T>A , LRG_745:g.10567T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.248T>A	ENSP00000507245.1:p.Leu83Ter
ENST00000682478.1:n.224T>A
ENST00000683576.1:n.224T>A
ENST00000683627.1:c.248T>A	ENSP00000507533.1:p.Leu83Ter
ENST00000684082.1:c.248T>A	ENSP00000508266.1:p.Leu83Ter
ENST00000684633.1:n.220T>A
ENST00000684678.1:c.244T>A	ENSP00000507059.1:n.244T>A
ENST00000369842.9:c.248T>A MANE Select	ENSP00000358857.4:p.Leu83Ter
ENST00000369835.3:c.143T>A	ENSP00000358850.3:p.Leu48Ter
ENST00000369842.8:c.248T>A	ENSP00000358857.4:p.Leu83Ter
ENST00000428228.5:c.*153T>A	ENSP00000401081.1:n.*153T>A
ENST00000468294.5:n.208T>A
ENST00000485261.1:n.224T>A
ENST00000486738.5:n.392T>A
ENST00000492448.1:n.231T>A
ENST00000494443.5:n.305T>A
NM_000117.2:c.248T>A , LRG_745t1:c.248T>A	NP_000108.1:p.Leu83Ter
XM_024452349.1:c.40T>A	XP_024308117.1:p.Tyr14Asn
NM_000117.3:c.248T>A MANE Select	NP_000108.1:p.Leu83Ter