Canonical Allele Identifier: CA415259054

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609422C>A (hg19) ; chrX:g.154381062C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381062C>A , CM000685.2:g.154381062C>A	GRCh38
NC_000023.10:g.153609422C>A , CM000685.1:g.153609422C>A	GRCh37
NC_000023.9:g.153262616C>A	NCBI36
NG_008677.1:g.11627C>A , LRG_745:g.11627C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+58C>A	ENSP00000507245.1:n.572+58C>A
ENST00000682478.1:n.762+58C>A
ENST00000683576.1:n.820C>A
ENST00000683627.1:c.630C>A	ENSP00000507533.1:p.Asn210Lys
ENST00000684082.1:c.587C>A	ENSP00000508266.1:n.587C>A
ENST00000684633.1:n.602C>A
ENST00000684678.1:c.568+58C>A	ENSP00000507059.1:n.568+58C>A
ENST00000369842.9:c.630C>A MANE Select	ENSP00000358857.4:p.Asn210Lys
ENST00000369835.3:c.525C>A	ENSP00000358850.3:p.Asn175Lys
ENST00000369842.8:c.630C>A	ENSP00000358857.4:p.Asn210Lys
ENST00000428228.5:c.*535C>A	ENSP00000401081.1:n.*535C>A
ENST00000471965.1:n.419C>A
ENST00000486738.5:n.1067C>A
ENST00000492448.1:n.613C>A
NM_000117.2:c.630C>A , LRG_745t1:c.630C>A	NP_000108.1:p.Asn210Lys
XM_024452349.1:c.636C>A	XP_024308117.1:p.Asn212Lys
NM_000117.3:c.630C>A MANE Select	NP_000108.1:p.Asn210Lys