Canonical Allele Identifier: CA415257508

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608124T>A (hg19) ; chrX:g.154379764T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379764T>A , CM000685.2:g.154379764T>A	GRCh38
NC_000023.10:g.153608124T>A , CM000685.1:g.153608124T>A	GRCh37
NC_000023.9:g.153261318T>A	NCBI36
NG_008677.1:g.10329T>A , LRG_745:g.10329T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.157T>A	ENSP00000507245.1:p.Ser53Thr
ENST00000682478.1:n.133T>A
ENST00000683576.1:n.133T>A
ENST00000683627.1:c.157T>A	ENSP00000507533.1:p.Ser53Thr
ENST00000684082.1:c.157T>A	ENSP00000508266.1:p.Ser53Thr
ENST00000684633.1:n.129T>A
ENST00000684678.1:c.153T>A	ENSP00000507059.1:p.Ala51=
ENST00000369842.9:c.157T>A MANE Select	ENSP00000358857.4:p.Ser53Thr
ENST00000369835.3:c.83-178T>A	ENSP00000358850.3:n.83-178T>A
ENST00000369842.8:c.157T>A	ENSP00000358857.4:p.Ser53Thr
ENST00000428228.5:c.*62T>A	ENSP00000401081.1:n.*62T>A
ENST00000468294.5:n.117T>A
ENST00000485261.1:n.164-178T>A
ENST00000486738.5:n.301T>A
ENST00000492448.1:n.140T>A
ENST00000494443.5:n.214T>A
NM_000117.2:c.157T>A , LRG_745t1:c.157T>A	NP_000108.1:p.Ser53Thr
XM_024452349.1:c.-52T>A	XP_024308117.1:n.-52T>A
NM_000117.3:c.157T>A MANE Select	NP_000108.1:p.Ser53Thr