Canonical Allele Identifier: CA415258970

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609387T>A (hg19) ; chrX:g.154381027T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381027T>A , CM000685.2:g.154381027T>A	GRCh38
NC_000023.10:g.153609387T>A , CM000685.1:g.153609387T>A	GRCh37
NC_000023.9:g.153262581T>A	NCBI36
NG_008677.1:g.11592T>A , LRG_745:g.11592T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+23T>A	ENSP00000507245.1:n.572+23T>A
ENST00000682478.1:n.762+23T>A
ENST00000683576.1:n.785T>A
ENST00000683627.1:c.595T>A	ENSP00000507533.1:p.Ser199Thr
ENST00000684082.1:c.552T>A	ENSP00000508266.1:n.552T>A
ENST00000684633.1:n.567T>A
ENST00000684678.1:c.568+23T>A	ENSP00000507059.1:n.568+23T>A
ENST00000369842.9:c.595T>A MANE Select	ENSP00000358857.4:p.Ser199Thr
ENST00000369835.3:c.490T>A	ENSP00000358850.3:p.Ser164Thr
ENST00000369842.8:c.595T>A	ENSP00000358857.4:p.Ser199Thr
ENST00000428228.5:c.*500T>A	ENSP00000401081.1:n.*500T>A
ENST00000471965.1:n.384T>A
ENST00000486738.5:n.1032T>A
ENST00000492448.1:n.578T>A
NM_000117.2:c.595T>A , LRG_745t1:c.595T>A	NP_000108.1:p.Ser199Thr
XM_024452349.1:c.601T>A	XP_024308117.1:p.Ser201Thr
NM_000117.3:c.595T>A MANE Select	NP_000108.1:p.Ser199Thr