Canonical Allele Identifier: CA415257759

Gene: EMD

Linked Data

• ClinVar Variation Id: 2708670
• ClinVar RCV Id: RCV003524202
• MyVariant Identifiers: chrX:g.153608376A>T (hg19) ; chrX:g.154380016A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380016A>T , CM000685.2:g.154380016A>T	GRCh38
NC_000023.10:g.153608376A>T , CM000685.1:g.153608376A>T	GRCh37
NC_000023.9:g.153261570A>T	NCBI36
NG_008677.1:g.10581A>T , LRG_745:g.10581A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.262A>T	ENSP00000507245.1:p.Lys88Ter
ENST00000682478.1:n.238A>T
ENST00000683576.1:n.238A>T
ENST00000683627.1:c.262A>T	ENSP00000507533.1:p.Lys88Ter
ENST00000684082.1:c.262A>T	ENSP00000508266.1:p.Lys88Ter
ENST00000684633.1:n.234A>T
ENST00000684678.1:c.258A>T	ENSP00000507059.1:n.258A>T
ENST00000369842.9:c.262A>T MANE Select	ENSP00000358857.4:p.Lys88Ter
ENST00000369835.3:c.157A>T	ENSP00000358850.3:p.Lys53Ter
ENST00000369842.8:c.262A>T	ENSP00000358857.4:p.Lys88Ter
ENST00000428228.5:c.*167A>T	ENSP00000401081.1:n.*167A>T
ENST00000468294.5:n.222A>T
ENST00000485261.1:n.238A>T
ENST00000486738.5:n.406A>T
ENST00000492448.1:n.245A>T
ENST00000494443.5:n.319A>T
NM_000117.2:c.262A>T , LRG_745t1:c.262A>T	NP_000108.1:p.Lys88Ter
XM_024452349.1:c.54A>T	XP_024308117.1:p.Ala18=
NM_000117.3:c.262A>T MANE Select	NP_000108.1:p.Lys88Ter