Canonical Allele Identifier: CA415256917

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153607873C>T (hg19) ; chrX:g.154379513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379513C>T , CM000685.2:g.154379513C>T	GRCh38
NC_000023.10:g.153607873C>T , CM000685.1:g.153607873C>T	GRCh37
NC_000023.9:g.153261067C>T	NCBI36
NG_008677.1:g.10078C>T , LRG_745:g.10078C>T
NG_011506.1:g.134G>A
NG_011506.2:g.126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.29C>T	ENSP00000507245.1:p.Thr10Ile
ENST00000682478.1:n.5C>T
ENST00000683576.1:n.5C>T
ENST00000683627.1:c.29C>T	ENSP00000507533.1:p.Thr10Ile
ENST00000684082.1:c.29C>T	ENSP00000508266.1:p.Thr10Ile
ENST00000684633.1:n.5C>T
ENST00000684678.1:c.29C>T	ENSP00000507059.1:p.Thr10Ile
ENST00000369842.9:c.29C>T MANE Select	ENSP00000358857.4:p.Thr10Ile
ENST00000369835.3:c.29C>T	ENSP00000358850.3:p.Thr10Ile
ENST00000369842.8:c.29C>T	ENSP00000358857.4:p.Thr10Ile
ENST00000428228.5:c.29C>T	ENSP00000401081.1:p.Thr10Ile
ENST00000485261.1:n.110C>T
ENST00000486738.5:n.173C>T
ENST00000494443.5:n.86C>T
NM_000117.2:c.29C>T , LRG_745t1:c.29C>T	NP_000108.1:p.Thr10Ile
XM_024452349.1:c.-180C>T	XP_024308117.1:n.-180C>T
NM_000117.3:c.29C>T MANE Select	NP_000108.1:p.Thr10Ile