Canonical Allele Identifier: CA415258153

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609117A>T (hg19) ; chrX:g.154380757A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380757A>T , CM000685.2:g.154380757A>T	GRCh38
NC_000023.10:g.153609117A>T , CM000685.1:g.153609117A>T	GRCh37
NC_000023.9:g.153262311A>T	NCBI36
NG_008677.1:g.11322A>T , LRG_745:g.11322A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.404A>T	ENSP00000507245.1:p.His135Leu
ENST00000682478.1:n.594A>T
ENST00000683576.1:n.594A>T
ENST00000683627.1:c.404A>T	ENSP00000507533.1:p.His135Leu
ENST00000684082.1:c.361A>T	ENSP00000508266.1:n.361A>T
ENST00000684633.1:n.376A>T
ENST00000684678.1:c.400A>T	ENSP00000507059.1:n.400A>T
ENST00000369842.9:c.404A>T MANE Select	ENSP00000358857.4:p.His135Leu
ENST00000369835.3:c.299A>T	ENSP00000358850.3:p.His100Leu
ENST00000369842.8:c.404A>T	ENSP00000358857.4:p.His135Leu
ENST00000428228.5:c.*309A>T	ENSP00000401081.1:n.*309A>T
ENST00000468294.5:n.364A>T
ENST00000471965.1:n.193A>T
ENST00000485261.1:n.594A>T
ENST00000486738.5:n.762A>T
ENST00000492448.1:n.387A>T
NM_000117.2:c.404A>T , LRG_745t1:c.404A>T	NP_000108.1:p.His135Leu
XM_024452349.1:c.410A>T	XP_024308117.1:p.His137Leu
NM_000117.3:c.404A>T MANE Select	NP_000108.1:p.His135Leu