Canonical Allele Identifier: CA415258841

Gene: EMD

Linked Data

• gnomAD v4: X-154380995-C-T
• MyVariant Identifiers: chrX:g.153609355C>T (hg19) ; chrX:g.154380995C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380995C>T , CM000685.2:g.154380995C>T	GRCh38
NC_000023.10:g.153609355C>T , CM000685.1:g.153609355C>T	GRCh37
NC_000023.9:g.153262549C>T	NCBI36
NG_008677.1:g.11560C>T , LRG_745:g.11560C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.563C>T	ENSP00000507245.1:p.Thr188Ile
ENST00000682478.1:n.753C>T
ENST00000683576.1:n.753C>T
ENST00000683627.1:c.563C>T	ENSP00000507533.1:p.Thr188Ile
ENST00000684082.1:c.520C>T	ENSP00000508266.1:n.520C>T
ENST00000684633.1:n.535C>T
ENST00000684678.1:c.559C>T	ENSP00000507059.1:n.559C>T
ENST00000369842.9:c.563C>T MANE Select	ENSP00000358857.4:p.Thr188Ile
ENST00000369835.3:c.458C>T	ENSP00000358850.3:p.Thr153Ile
ENST00000369842.8:c.563C>T	ENSP00000358857.4:p.Thr188Ile
ENST00000428228.5:c.*468C>T	ENSP00000401081.1:n.*468C>T
ENST00000471965.1:n.352C>T
ENST00000486738.5:n.1000C>T
ENST00000492448.1:n.546C>T
NM_000117.2:c.563C>T , LRG_745t1:c.563C>T	NP_000108.1:p.Thr188Ile
XM_024452349.1:c.569C>T	XP_024308117.1:p.Thr190Ile
NM_000117.3:c.563C>T MANE Select	NP_000108.1:p.Thr188Ile