Canonical Allele Identifier: CA519710132

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609467C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381107C>T , CM000685.2:g.154381107C>T	GRCh38
NC_000023.10:g.153609467C>T , CM000685.1:g.153609467C>T	GRCh37
NC_000023.9:g.153262661C>T	NCBI36
NG_008677.1:g.11672C>T , LRG_745:g.11672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+103C>T	ENSP00000507245.1:n.572+103C>T
ENST00000682478.1:n.762+103C>T
ENST00000683576.1:n.865C>T
ENST00000683627.1:c.675C>T	ENSP00000507533.1:p.Leu225=
ENST00000684082.1:c.632C>T	ENSP00000508266.1:n.632C>T
ENST00000684633.1:n.647C>T
ENST00000684678.1:c.568+103C>T	ENSP00000507059.1:n.568+103C>T
ENST00000369842.9:c.675C>T MANE Select	ENSP00000358857.4:p.Leu225=
ENST00000369835.3:c.570C>T	ENSP00000358850.3:p.Leu190=
ENST00000369842.8:c.675C>T	ENSP00000358857.4:p.Leu225=
ENST00000428228.5:c.*580C>T	ENSP00000401081.1:n.*580C>T
ENST00000471965.1:n.464C>T
ENST00000486738.5:n.1112C>T
ENST00000492448.1:n.658C>T
NM_000117.2:c.675C>T , LRG_745t1:c.675C>T	NP_000108.1:p.Leu225=
XM_024452349.1:c.681C>T	XP_024308117.1:p.Leu227=
NM_000117.3:c.675C>T MANE Select	NP_000108.1:p.Leu225=